Canonical Allele Identifier: CA369121414

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116953687C>A , CM000669.2:g.116953687C>A GRCh38
NC_000007.13:g.116593741C>A , CM000669.1:g.116593741C>A GRCh37
NC_000007.12:g.116380977C>A NCBI36
NG_047088.1:g.5361C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001369598.1:c.147C>A (ST7) MANE Select NP_001356527.1:p.Ser49Arg
ENST00000323984.8:c.147C>A (ST7) MANE Select ENSP00000325673.3:p.Ser49Arg
NM_001369601.1:c.147C>A (ST7) NP_001356530.1:p.Ser49Arg
NM_001369604.1:c.147C>A (ST7) NP_001356533.1:p.Ser49Arg
NM_001369607.1:c.-207C>A (ST7) NP_001356536.1:n.-207C>A
NM_018412.3:c.147C>A (ST7) NP_060882.2:p.Ser49Arg
NM_018412.4:c.147C>A (ST7) NP_060882.2:p.Ser49Arg
NM_021908.2:c.147C>A (ST7) NP_068708.1:p.Ser49Arg
NM_021908.3:c.147C>A (ST7) NP_068708.1:p.Ser49Arg
NR_002330.1:n.648G>T (ST7-AS1)
NR_161420.1:n.187C>A (ST7)
NR_161421.1:n.187C>A (ST7)
NR_161422.1:n.187C>A (ST7)
NR_161423.1:n.187C>A (ST7)
ENST00000265437.9:c.147C>A (ST7) ENSP00000265437.5:p.Ser49Arg
ENST00000323984.7:c.147C>A (ST7) ENSP00000325673.3:p.Ser49Arg
ENST00000393446.6:c.147C>A (ST7) ENSP00000377092.2:p.Ser49Arg
ENST00000393449.5:c.147C>A (ST7) ENSP00000377095.1:p.Ser49Arg
ENST00000393451.7:c.147C>A (ST7) ENSP00000377097.3:p.Ser49Arg
ENST00000417919.5:c.-207C>A (ST7) ENSP00000391444.1:n.-207C>A
ENST00000438863.5:c.147C>A (ST7) ENSP00000390830.1:p.Ser49Arg
ENST00000443979.5:c.147C>A (ST7) ENSP00000392876.1:p.Ser49Arg
ENST00000446490.5:c.147C>A (ST7) ENSP00000402934.1:p.Ser49Arg