Canonical Allele Identifier: CA1183881

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158674607T>C , CM000663.2:g.158674607T>C	GRCh38
NC_000001.10:g.158644397T>C , CM000663.1:g.158644397T>C	GRCh37
NC_000001.9:g.156911021T>C	NCBI36
NG_011474.1:g.17110A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003126.4:c.1181A>G MANE Select	NP_003117.2:p.Asn394Ser
ENST00000643759.2:c.1181A>G MANE Select	ENSP00000495214.1:p.Asn394Ser
NM_003126.2:c.1181A>G	NP_003117.2:p.Asn394Ser
NM_003126.3:c.1181A>G	NP_003117.2:p.Asn394Ser
ENST00000368147.8:c.1181A>G	ENSP00000357129.4:p.Asn394Ser
ENST00000614909.4:c.1181A>G	ENSP00000482595.1:p.Asn394Ser
XM_011509916.1:c.1181A>G	XP_011508218.1:p.Asn394Ser
XM_011509916.2:c.1181A>G	XP_011508218.1:p.Asn394Ser
XM_011509917.1:c.1181A>G	XP_011508219.1:p.Asn394Ser
XM_011509917.3:c.1181A>G	XP_011508219.1:p.Asn394Ser
XM_011509918.1:c.1181A>G	XP_011508220.1:p.Asn394Ser
XM_011509918.3:c.1181A>G	XP_011508220.1:p.Asn394Ser
XM_011509919.1:c.1181A>G	XP_011508221.1:p.Asn394Ser
XM_011509919.3:c.1181A>G	XP_011508221.1:p.Asn394Ser
XR_921911.1:n.1294A>G
XR_921911.3:n.1307A>G
XR_921912.1:n.1299A>G
XR_921912.2:n.1309A>G