Canonical Allele Identifier: CA1184279

Gene: SPTA1

Linked Data

• dbSNP Id: rs763741536
• ExAC: 1:158655167 T / A
• gnomAD v2: 1-158655167-T-A
• gnomAD v3: 1-158685377-T-A
• gnomAD v4: 1-158685377-T-A
• MyVariant Identifiers: chr1:g.158655167T>A (hg19) ; chr1:g.158685377T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685377T>A , CM000663.2:g.158685377T>A	GRCh38
NC_000001.10:g.158655167T>A , CM000663.1:g.158655167T>A	GRCh37
NC_000001.9:g.156921791T>A	NCBI36
NG_011474.1:g.6340A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.25-30A>T MANE Select	ENSP00000495214.1:n.25-30A>T
ENST00000368147.8:c.25-30A>T	ENSP00000357129.4:n.25-30A>T
ENST00000467387.1:c.25-30A>T	ENSP00000476485.1:n.25-30A>T
ENST00000614909.4:c.25-30A>T	ENSP00000482595.1:n.25-30A>T
NM_003126.2:c.25-30A>T	NP_003117.2:n.25-30A>T
XM_011509916.1:c.25-30A>T	XP_011508218.1:n.25-30A>T
XM_011509917.1:c.25-30A>T	XP_011508219.1:n.25-30A>T
XM_011509918.1:c.25-30A>T	XP_011508220.1:n.25-30A>T
XM_011509919.1:c.25-30A>T	XP_011508221.1:n.25-30A>T
XR_921911.1:n.138-30A>T
XR_921912.1:n.143-30A>T
NM_003126.3:c.25-30A>T	NP_003117.2:n.25-30A>T
XM_011509916.2:c.25-30A>T	XP_011508218.1:n.25-30A>T
XM_011509917.3:c.25-30A>T	XP_011508219.1:n.25-30A>T
XM_011509918.3:c.25-30A>T	XP_011508220.1:n.25-30A>T
XM_011509919.3:c.25-30A>T	XP_011508221.1:n.25-30A>T
XR_921911.3:n.151-30A>T
XR_921912.2:n.153-30A>T
NM_003126.4:c.25-30A>T MANE Select	NP_003117.2:n.25-30A>T