Canonical Allele Identifier: CA3633858
Community Standard Title: NM_001242957.3(MAK):c.7C>T (p.Arg3Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10830642G>A , CM000668.2:g.10830642G>A GRCh38
NC_000006.11:g.10830875G>A , CM000668.1:g.10830875G>A GRCh37
NC_000006.10:g.10938861G>A NCBI36
NG_030040.1:g.12914C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001242957.3:c.7C>T (MAK) MANE Select NP_001229886.1:p.Arg3Ter
ENST00000354489.7:c.7C>T (MAK) MANE Select ENSP00000346484.3:p.Arg3Ter
NM_001242385.1:c.7C>T (MAK) NP_001229314.1:p.Arg3Ter
NM_001242385.2:c.7C>T (MAK) NP_001229314.1:p.Arg3Ter
NM_001242957.1:c.7C>T (MAK) NP_001229886.1:p.Arg3Ter
NM_001242957.2:c.7C>T (MAK) NP_001229886.1:p.Arg3Ter
NM_001377262.1:c.-2+7861C>T (MAK) NP_001364191.1:n.-2+7861C>T
NM_005906.4:c.7C>T (MAK) NP_005897.1:p.Arg3Ter
NM_005906.5:c.7C>T (MAK) NP_005897.1:p.Arg3Ter
NM_005906.6:c.7C>T (MAK) NP_005897.1:p.Arg3Ter
NR_134935.1:n.289C>T (MAK)
NR_134935.2:n.273C>T (MAK)
NR_134936.1:n.378C>T (MAK)
NR_134936.2:n.434C>T (MAK)
ENST00000313243.6:c.7C>T (MAK) ENSP00000313021.2:p.Arg3Ter
ENST00000354489.6:c.7C>T (MAK) ENSP00000346484.3:p.Arg3Ter
ENST00000460341.5:c.*121-7382G>A (TMEM14B) ENSP00000417095.1:n.*121-7382G>A
ENST00000463448.5:c.*121-20918G>A (TMEM14B) ENSP00000419208.1:n.*121-20918G>A
ENST00000474039.5:c.7C>T (MAK) ENSP00000476067.1:p.Arg3Ter
ENST00000480294.1:c.101-60871G>A ENSP00000417929.1:n.101-60871G>A
ENST00000536370.5:c.7C>T (MAK) ENSP00000442221.2:p.Arg3Ter
ENST00000536370.6:c.7C>T (MAK) ENSP00000442221.2:p.Arg3Ter
ENST00000538030.2:c.7C>T (MAK) ENSP00000442250.1:p.Arg3Ter
ENST00000538030.3:c.7C>T (MAK) ENSP00000442250.1:p.Arg3Ter
ENST00000675026.1:c.7C>T (MAK) ENSP00000502542.1:p.Arg3Ter
ENST00000676116.1:c.-2+7861C>T (MAK) ENSP00000502045.1:n.-2+7861C>T
XM_011514619.1:c.7C>T (MAK) XP_011512921.1:p.Arg3Ter
XM_011514619.2:c.7C>T (MAK) XP_011512921.1:p.Arg3Ter
XM_011514620.1:c.7C>T (MAK) XP_011512922.1:p.Arg3Ter
XM_011514620.2:c.7C>T (MAK) XP_011512922.1:p.Arg3Ter
XM_011514621.1:c.44+7861C>T (MAK) XP_011512923.1:n.44+7861C>T
XM_011514621.2:c.44+7861C>T (MAK) XP_011512923.1:n.44+7861C>T
XM_011514622.1:c.7C>T (MAK) XP_011512924.1:p.Arg3Ter
XM_011514622.3:c.7C>T (MAK) XP_011512924.1:p.Arg3Ter
XM_017010863.2:c.7C>T (MAK) XP_016866352.1:p.Arg3Ter
XM_017010864.2:c.7C>T (MAK) XP_016866353.1:p.Arg3Ter
XM_017010865.1:c.44+7861C>T (MAK) XP_016866354.1:n.44+7861C>T
XM_017010866.2:c.7C>T (MAK) XP_016866355.1:p.Arg3Ter
XM_024446444.1:c.7C>T (MAK) XP_024302212.1:p.Arg3Ter
XR_001743419.2:n.277C>T (MAK)
XR_002956283.1:n.277C>T (MAK)
XR_926215.1:n.339C>T (MAK)
XR_926215.3:n.277C>T (MAK)
XR_926216.1:n.375C>T (MAK)
XR_926217.1:n.339C>T (MAK)
XR_926219.1:n.339C>T (MAK)
XR_926220.1:n.339C>T (MAK)
XR_926220.3:n.277C>T (MAK)
XR_926221.1:n.339C>T (MAK)