Canonical Allele Identifier: CA889960689

Gene: SPTA1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158642758T>C , CM000663.2:g.158642758T>C	GRCh38
NC_000001.10:g.158612548T>C , CM000663.1:g.158612548T>C	GRCh37
NC_000001.9:g.156879172T>C	NCBI36
NG_011474.1:g.48959A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.4605+56A>G MANE Select	ENSP00000495214.1:n.4605+56A>G
ENST00000368147.8:c.4605+56A>G	ENSP00000357129.4:n.4605+56A>G
ENST00000614909.4:c.4605+56A>G	ENSP00000482595.1:n.4605+56A>G
NM_003126.2:c.4605+56A>G	NP_003117.2:n.4605+56A>G
XM_011509916.1:c.4605+56A>G	XP_011508218.1:n.4605+56A>G
XM_011509917.1:c.4605+56A>G	XP_011508219.1:n.4605+56A>G
XM_011509918.1:c.4605+56A>G	XP_011508220.1:n.4605+56A>G
XM_011509919.1:c.4605+56A>G	XP_011508221.1:n.4605+56A>G
XR_921911.1:n.4718+56A>G
XR_921912.1:n.4793+56A>G
NM_003126.3:c.4605+56A>G	NP_003117.2:n.4605+56A>G
XM_011509916.2:c.4605+56A>G	XP_011508218.1:n.4605+56A>G
XM_011509917.3:c.4605+56A>G	XP_011508219.1:n.4605+56A>G
XM_011509918.3:c.4605+56A>G	XP_011508220.1:n.4605+56A>G
XM_011509919.3:c.4605+56A>G	XP_011508221.1:n.4605+56A>G
XR_921911.3:n.4731+56A>G
XR_921912.2:n.4803+56A>G
NM_003126.4:c.4605+56A>G MANE Select	NP_003117.2:n.4605+56A>G