Canonical Allele Identifier: CA10782009
Gene: SPTA1 HGNC NCBI
COSMIC:
COSN19623441 (not active)
COSN20280308 (not active)
MyVariant.info:
GRCh38 chr1:g.158642758T>A
GRCh37 chr1:g.158612548T>A
gnomAD v2:
1:158612548 T / A
gnomAD v3:
1:158642758 T / A
gnomAD v4:
chr1-158642758-T-A
Joint Max Group AF 0.40799594 (EAS)
Genomes Max Group AF 0.43593569 (EAS)
Exomes Max Group AF 0.40273963 (EAS)
dbSNP:
857721
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.4605+56A>T MANE Select ENSP00000495214.1:n.4605+56A>T
ENST00000368147.8:c.4605+56A>T ENSP00000357129.4:n.4605+56A>T
ENST00000614909.4:c.4605+56A>T ENSP00000482595.1:n.4605+56A>T
NM_003126.2:c.4605+56A>T NP_003117.2:n.4605+56A>T
XM_011509916.1:c.4605+56A>T XP_011508218.1:n.4605+56A>T
XM_011509917.1:c.4605+56A>T XP_011508219.1:n.4605+56A>T
XM_011509918.1:c.4605+56A>T XP_011508220.1:n.4605+56A>T
XM_011509919.1:c.4605+56A>T XP_011508221.1:n.4605+56A>T
XR_921911.1:n.4718+56A>T
XR_921912.1:n.4793+56A>T
NM_003126.3:c.4605+56A>T NP_003117.2:n.4605+56A>T
XM_011509916.2:c.4605+56A>T XP_011508218.1:n.4605+56A>T
XM_011509917.3:c.4605+56A>T XP_011508219.1:n.4605+56A>T
XM_011509918.3:c.4605+56A>T XP_011508220.1:n.4605+56A>T
XM_011509919.3:c.4605+56A>T XP_011508221.1:n.4605+56A>T
XR_921911.3:n.4731+56A>T
XR_921912.2:n.4803+56A>T
NM_003126.4:c.4605+56A>T MANE Select NP_003117.2:n.4605+56A>T
Search 100 bp 5'
Search 100 bp 3'