Canonical Allele Identifier: CA1182354

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158636624T>C , CM000663.2:g.158636624T>C	GRCh38
NC_000001.10:g.158606414T>C , CM000663.1:g.158606414T>C	GRCh37
NC_000001.9:g.156873038T>C	NCBI36
NG_011474.1:g.55093A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.5310+17A>G MANE Select	ENSP00000495214.1:n.5310+17A>G
ENST00000368147.8:c.5310+17A>G	ENSP00000357129.4:n.5310+17A>G
ENST00000614909.4:c.5310+17A>G	ENSP00000482595.1:n.5310+17A>G
NM_003126.2:c.5310+17A>G	NP_003117.2:n.5310+17A>G
XM_011509916.1:c.5310+17A>G	XP_011508218.1:n.5310+17A>G
XM_011509917.1:c.5310+17A>G	XP_011508219.1:n.5310+17A>G
XM_011509918.1:c.5310+17A>G	XP_011508220.1:n.5310+17A>G
XM_011509919.1:c.*13+17A>G	XP_011508221.1:n.*13+17A>G
XR_921911.1:n.5423+17A>G
NM_003126.3:c.5310+17A>G	NP_003117.2:n.5310+17A>G
XM_011509916.2:c.5310+17A>G	XP_011508218.1:n.5310+17A>G
XM_011509917.3:c.5310+17A>G	XP_011508219.1:n.5310+17A>G
XM_011509918.3:c.5310+17A>G	XP_011508220.1:n.5310+17A>G
XM_011509919.3:c.*13+17A>G	XP_011508221.1:n.*13+17A>G
XR_921911.3:n.5436+17A>G
NM_003126.4:c.5310+17A>G MANE Select	NP_003117.2:n.5310+17A>G