Canonical Allele Identifier: CA1182403

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158637998T>G , CM000663.2:g.158637998T>G	GRCh38
NC_000001.10:g.158607788T>G , CM000663.1:g.158607788T>G	GRCh37
NC_000001.9:g.156874412T>G	NCBI36
NG_011474.1:g.53719A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003126.4:c.5189+35A>C MANE Select	NP_003117.2:n.5189+35A>C
ENST00000643759.2:c.5189+35A>C MANE Select	ENSP00000495214.1:n.5189+35A>C
NM_003126.2:c.5189+35A>C	NP_003117.2:n.5189+35A>C
NM_003126.3:c.5189+35A>C	NP_003117.2:n.5189+35A>C
ENST00000368147.8:c.5189+35A>C	ENSP00000357129.4:n.5189+35A>C
ENST00000614909.4:c.5189+35A>C	ENSP00000482595.1:n.5189+35A>C
XM_011509916.1:c.5189+35A>C	XP_011508218.1:n.5189+35A>C
XM_011509916.2:c.5189+35A>C	XP_011508218.1:n.5189+35A>C
XM_011509917.1:c.5189+35A>C	XP_011508219.1:n.5189+35A>C
XM_011509917.3:c.5189+35A>C	XP_011508219.1:n.5189+35A>C
XM_011509918.1:c.5189+35A>C	XP_011508220.1:n.5189+35A>C
XM_011509918.3:c.5189+35A>C	XP_011508220.1:n.5189+35A>C
XM_011509919.1:c.4981-1237A>C	XP_011508221.1:n.4981-1237A>C
XM_011509919.3:c.4981-1237A>C	XP_011508221.1:n.4981-1237A>C
XR_921911.1:n.5302+35A>C
XR_921911.3:n.5315+35A>C