Canonical Allele Identifier: CA2580061366

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 2436341
• ClinVar RCV Id: RCV003138678

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685350G>C , CM000663.2:g.158685350G>C	GRCh38
NC_000001.10:g.158655140G>C , CM000663.1:g.158655140G>C	GRCh37
NC_000001.9:g.156921764G>C	NCBI36
NG_011474.1:g.6367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.25-3C>G MANE Select	ENSP00000495214.1:n.25-3C>G
ENST00000368147.8:c.25-3C>G	ENSP00000357129.4:n.25-3C>G
ENST00000467387.1:c.25-3C>G	ENSP00000476485.1:n.25-3C>G
ENST00000614909.4:c.25-3C>G	ENSP00000482595.1:n.25-3C>G
NM_003126.2:c.25-3C>G	NP_003117.2:n.25-3C>G
XM_011509916.1:c.25-3C>G	XP_011508218.1:n.25-3C>G
XM_011509917.1:c.25-3C>G	XP_011508219.1:n.25-3C>G
XM_011509918.1:c.25-3C>G	XP_011508220.1:n.25-3C>G
XM_011509919.1:c.25-3C>G	XP_011508221.1:n.25-3C>G
XR_921911.1:n.138-3C>G
XR_921912.1:n.143-3C>G
NM_003126.3:c.25-3C>G	NP_003117.2:n.25-3C>G
XM_011509916.2:c.25-3C>G	XP_011508218.1:n.25-3C>G
XM_011509917.3:c.25-3C>G	XP_011508219.1:n.25-3C>G
XM_011509918.3:c.25-3C>G	XP_011508220.1:n.25-3C>G
XM_011509919.3:c.25-3C>G	XP_011508221.1:n.25-3C>G
XR_921911.3:n.151-3C>G
XR_921912.2:n.153-3C>G
NM_003126.4:c.25-3C>G MANE Select	NP_003117.2:n.25-3C>G