Canonical Allele Identifier: CA122756
Gene: SPTA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12853
ClinVar RCV Id: RCV000013707
dbSNP Id: rs121918641

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158685289C>A , CM000663.2:g.158685289C>A GRCh38
NC_000001.9:g.156921703C>A NCBI36
NC_000001.10:g.158655079C>A , CM000663.1:g.158655079C>A GRCh37
NG_011474.1:g.6428G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368147.8:c.83G>T ENSP00000357129.4:p.Arg28Leu
ENST00000467387.1:c.83G>T ENSP00000476485.1:p.Arg28Leu
ENST00000614909.4:c.83G>T ENSP00000482595.1:p.Arg28Leu
NM_003126.2:c.83G>T NP_003117.2:p.Arg28Leu
XM_011509916.1:c.83G>T XP_011508218.1:p.Arg28Leu
XM_011509917.1:c.83G>T XP_011508219.1:p.Arg28Leu
XM_011509918.1:c.83G>T XP_011508220.1:p.Arg28Leu
XM_011509919.1:c.83G>T XP_011508221.1:p.Arg28Leu
XR_921911.1:n.196G>T
XR_921912.1:n.201G>T