Canonical Allele Identifier: CA343028691

Gene: SPTA1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158638145T>C , CM000663.2:g.158638145T>C	GRCh38
NC_000001.10:g.158607935T>C , CM000663.1:g.158607935T>C	GRCh37
NC_000001.9:g.156874559T>C	NCBI36
NG_011474.1:g.53572A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.5077A>G MANE Select	ENSP00000495214.1:p.Lys1693Glu
ENST00000368147.8:c.5077A>G	ENSP00000357129.4:p.Lys1693Glu
ENST00000614909.4:c.5077A>G	ENSP00000482595.1:p.Lys1693Glu
NM_003126.2:c.5077A>G	NP_003117.2:p.Lys1693Glu
XM_011509916.1:c.5077A>G	XP_011508218.1:p.Lys1693Glu
XM_011509917.1:c.5077A>G	XP_011508219.1:p.Lys1693Glu
XM_011509918.1:c.5077A>G	XP_011508220.1:p.Lys1693Glu
XM_011509919.1:c.4981-1384A>G	XP_011508221.1:n.4981-1384A>G
XR_921911.1:n.5190A>G
NM_003126.3:c.5077A>G	NP_003117.2:p.Lys1693Glu
XM_011509916.2:c.5077A>G	XP_011508218.1:p.Lys1693Glu
XM_011509917.3:c.5077A>G	XP_011508219.1:p.Lys1693Glu
XM_011509918.3:c.5077A>G	XP_011508220.1:p.Lys1693Glu
XM_011509919.3:c.4981-1384A>G	XP_011508221.1:n.4981-1384A>G
XR_921911.3:n.5203A>G
NM_003126.4:c.5077A>G MANE Select	NP_003117.2:p.Lys1693Glu