Canonical Allele Identifier: CA1183330

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158657697A>G , CM000663.2:g.158657697A>G	GRCh38
NC_000001.10:g.158627487A>G , CM000663.1:g.158627487A>G	GRCh37
NC_000001.9:g.156894111A>G	NCBI36
NG_011474.1:g.34020T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003126.4:c.2588-3T>C MANE Select	NP_003117.2:n.2588-3T>C
ENST00000643759.2:c.2588-3T>C MANE Select	ENSP00000495214.1:n.2588-3T>C
NM_003126.2:c.2588-3T>C	NP_003117.2:n.2588-3T>C
NM_003126.3:c.2588-3T>C	NP_003117.2:n.2588-3T>C
ENST00000368147.8:c.2588-3T>C	ENSP00000357129.4:n.2588-3T>C
ENST00000614909.4:c.2588-3T>C	ENSP00000482595.1:n.2588-3T>C
ENST00000647256.1:n.188-3T>C
XM_011509916.1:c.2588-3T>C	XP_011508218.1:n.2588-3T>C
XM_011509916.2:c.2588-3T>C	XP_011508218.1:n.2588-3T>C
XM_011509917.1:c.2588-3T>C	XP_011508219.1:n.2588-3T>C
XM_011509917.3:c.2588-3T>C	XP_011508219.1:n.2588-3T>C
XM_011509918.1:c.2588-3T>C	XP_011508220.1:n.2588-3T>C
XM_011509918.3:c.2588-3T>C	XP_011508220.1:n.2588-3T>C
XM_011509919.1:c.2588-3T>C	XP_011508221.1:n.2588-3T>C
XM_011509919.3:c.2588-3T>C	XP_011508221.1:n.2588-3T>C
XR_921911.1:n.2701-3T>C
XR_921911.3:n.2714-3T>C
XR_921912.1:n.2706-3T>C
XR_921912.2:n.2716-3T>C