Canonical Allele Identifier: CA1182319

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158635959G>A , CM000663.2:g.158635959G>A	GRCh38
NC_000001.10:g.158605749G>A , CM000663.1:g.158605749G>A	GRCh37
NC_000001.9:g.156872373G>A	NCBI36
NG_011474.1:g.55758C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.5386C>T MANE Select	ENSP00000495214.1:p.Gln1796Ter
ENST00000368147.8:c.5386C>T	ENSP00000357129.4:p.Gln1796Ter
ENST00000614909.4:c.5386C>T	ENSP00000482595.1:p.Gln1796Ter
NM_003126.2:c.5386C>T	NP_003117.2:p.Gln1796Ter
XM_011509916.1:c.5386C>T	XP_011508218.1:p.Gln1796Ter
XM_011509917.1:c.5386C>T	XP_011508219.1:p.Gln1796Ter
XM_011509918.1:c.5386C>T	XP_011508220.1:p.Gln1796Ter
XM_011509919.1:c.*89C>T	XP_011508221.1:n.*89C>T
XR_921911.1:n.5499C>T
NM_003126.3:c.5386C>T	NP_003117.2:p.Gln1796Ter
XM_011509916.2:c.5386C>T	XP_011508218.1:p.Gln1796Ter
XM_011509917.3:c.5386C>T	XP_011508219.1:p.Gln1796Ter
XM_011509918.3:c.5386C>T	XP_011508220.1:p.Gln1796Ter
XM_011509919.3:c.*89C>T	XP_011508221.1:n.*89C>T
XR_921911.3:n.5512C>T
NM_003126.4:c.5386C>T MANE Select	NP_003117.2:p.Gln1796Ter