Canonical Allele Identifier: CA421285124

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158620215C>T , CM000663.2:g.158620215C>T	GRCh38
NC_000001.10:g.158590005C>T , CM000663.1:g.158590005C>T	GRCh37
NC_000001.9:g.156856629C>T	NCBI36
NG_011474.1:g.71502G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003126.4:c.6372G>A MANE Select	NP_003117.2:p.Val2124=
ENST00000643759.2:c.6372G>A MANE Select	ENSP00000495214.1:p.Val2124=
NM_003126.2:c.6372G>A	NP_003117.2:p.Val2124=
NM_003126.3:c.6372G>A	NP_003117.2:p.Val2124=
ENST00000368147.8:c.6372G>A	ENSP00000357129.4:p.Val2124=
ENST00000484520.1:n.575G>A
ENST00000614909.4:c.6372G>A	ENSP00000482595.1:p.Val2124=
XM_011509916.1:c.6372G>A	XP_011508218.1:p.Val2124=
XM_011509916.2:c.6372G>A	XP_011508218.1:p.Val2124=
XM_011509917.1:c.6372G>A	XP_011508219.1:p.Val2124=
XM_011509917.3:c.6372G>A	XP_011508219.1:p.Val2124=