Canonical Allele Identifier: CA73936970
Community Standard Title: NM_001308426.2(NME6):c.245G>T (p.Arg82Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48295224C>A , CM000665.2:g.48295224C>A GRCh38
NC_000003.11:g.48336714C>A , CM000665.1:g.48336714C>A GRCh37
NC_000003.10:g.48311718C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001308426.2:c.245G>T (NME6) MANE Select NP_001295355.1:p.Arg82Leu
ENST00000442597.6:c.245G>T (NME6) MANE Select ENSP00000406642.1:p.Arg82Leu
NM_001308426.1:c.245G>T (NME6) NP_001295355.1:p.Arg82Leu
NM_001308427.1:c.245G>T (NME6) NP_001295356.1:p.Arg82Leu
NM_001308427.2:c.245G>T (NME6) NP_001295356.1:p.Arg82Leu
NM_001308428.1:c.245G>T (NME6) NP_001295357.1:p.Arg82Leu
NM_001308428.2:c.245G>T (NME6) NP_001295357.1:p.Arg82Leu
NM_001308430.1:c.229G>T (NME6) NP_001295359.1:p.Glu77Ter
NM_001308430.2:c.229G>T (NME6) NP_001295359.1:p.Glu77Ter
NM_001308431.1:c.205G>T (NME6) NP_001295360.1:p.Glu69Ter
NM_001308431.2:c.205G>T (NME6) NP_001295360.1:p.Glu69Ter
NM_001308433.1:c.205G>T (NME6) NP_001295362.1:p.Glu69Ter
NM_001308433.2:c.205G>T (NME6) NP_001295362.1:p.Glu69Ter
NM_001308434.1:c.110G>T (NME6) NP_001295363.1:p.Arg37Leu
NM_001308434.2:c.110G>T (NME6) NP_001295363.1:p.Arg37Leu
NM_001308435.1:c.194-421G>T (NME6) NP_001295364.1:n.194-421G>T
NM_001308435.2:c.194-421G>T (NME6) NP_001295364.1:n.194-421G>T
NM_005793.3:c.269G>T (NME6) NP_005784.1:p.Arg90Leu
NM_005793.4:c.269G>T (NME6) NP_005784.1:p.Arg90Leu
NM_005793.5:c.269G>T (NME6) NP_005784.1:p.Arg90Leu
ENST00000412564.5:c.224-3731C>A (ZNF589) ENSP00000404398.1:n.224-3731C>A
ENST00000415053.5:c.245G>T (NME6) ENSP00000399582.1:p.Arg82Leu
ENST00000415644.5:c.194-421G>T (NME6) ENSP00000394232.1:n.194-421G>T
ENST00000418431.5:c.*74G>T (NME6) ENSP00000394128.1:n.*74G>T
ENST00000421967.5:c.269G>T (NME6) ENSP00000416658.1:p.Arg90Leu
ENST00000425930.5:c.245G>T (NME6) ENSP00000411116.1:p.Arg82Leu
ENST00000426689.6:c.245G>T (NME6) ENSP00000440286.1:p.Arg82Leu
ENST00000435684.5:c.205G>T (NME6) ENSP00000393261.1:p.Glu69Ter
ENST00000442597.5:c.245G>T (NME6) ENSP00000406642.1:p.Arg82Leu
ENST00000444069.5:n.72G>T (NME6)
ENST00000447314.5:c.110G>T (NME6) ENSP00000414842.1:p.Arg37Leu
ENST00000451657.5:c.205G>T (NME6) ENSP00000407933.1:p.Glu69Ter
ENST00000451657.6:c.205G>T (NME6) ENSP00000407933.1:p.Glu69Ter
ENST00000452211.5:c.245G>T (NME6) ENSP00000392352.1:p.Arg82Leu
ENST00000454531.1:c.*74G>T (NME6) ENSP00000410435.1:n.*74G>T
ENST00000456495.5:c.245G>T (NME6) ENSP00000392715.1:p.Arg82Leu
ENST00000494209.1:n.1249G>T (NME6)
ENST00000642710.1:c.-50G>T (NME6) ENSP00000494272.1:n.-50G>T
ENST00000643011.1:c.29G>T (NME6) ENSP00000496560.1:p.Arg10Leu
ENST00000643457.1:c.245G>T (NME6) ENSP00000495130.1:p.Arg82Leu
XM_005264789.2:c.719G>T (NME6) XP_005264846.1:p.Arg240Leu
XM_005264790.2:c.679G>T (NME6) XP_005264847.1:p.Glu227Ter
XM_017005511.2:c.205G>T (NME6) XP_016861000.1:p.Glu69Ter
XM_017005512.2:c.479G>T (NME6) XP_016861001.1:p.Arg160Leu
XM_017005513.2:c.257G>T (NME6) XP_016861002.1:p.Arg86Leu
XM_017005514.2:c.245G>T (NME6) XP_016861003.1:p.Arg82Leu
XM_017005515.1:c.205G>T (NME6) XP_016861004.1:p.Glu69Ter
XM_017005516.2:c.229G>T (NME6) XP_016861005.1:p.Glu77Ter
XM_017005517.1:c.29G>T (NME6) XP_016861006.1:p.Arg10Leu
XM_017005518.2:c.20G>T (NME6) XP_016861007.1:p.Arg7Leu
XM_024453297.1:c.245G>T (NME6) XP_024309065.1:p.Arg82Leu
XM_024453298.1:c.479G>T (NME6) XP_024309066.1:p.Arg160Leu
XM_024453299.1:c.377G>T (NME6) XP_024309067.1:p.Arg126Leu
XM_024453300.1:c.269G>T (NME6) XP_024309068.1:p.Arg90Leu
XM_024453301.1:c.257G>T (NME6) XP_024309069.1:p.Arg86Leu
XM_024453302.1:c.245G>T (NME6) XP_024309070.1:p.Arg82Leu
XM_024453303.1:c.245G>T (NME6) XP_024309071.1:p.Arg82Leu
XM_024453304.1:c.245G>T (NME6) XP_024309072.1:p.Arg82Leu
XM_024453305.1:c.245G>T (NME6) XP_024309073.1:p.Arg82Leu
XM_024453306.1:c.245G>T (NME6) XP_024309074.1:p.Arg82Leu
XR_245088.2:n.1224G>T (NME6)