Canonical Allele Identifier: CA122759
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158685289C>T
GRCh37 chr1:g.158655079C>T
Revel Score:
ENST00000368148 0.419
ENST00000368147 0.419
gnomAD v2:
1:158655079 C / T
gnomAD v3:
1:158685289 C / T
gnomAD v4:
chr1-158685289-C-T
Joint Max Group AF 0.00010238 (AFR)
Genomes Max Group AF 0.00013011 (AFR)
Exomes Max Group AF 0.00002376 (AFR)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.83G>A MANE Select ENSP00000495214.1:p.Arg28His
ENST00000368147.8:c.83G>A ENSP00000357129.4:p.Arg28His
ENST00000467387.1:c.83G>A ENSP00000476485.1:p.Arg28His
ENST00000614909.4:c.83G>A ENSP00000482595.1:p.Arg28His
NM_003126.2:c.83G>A NP_003117.2:p.Arg28His
XM_011509916.1:c.83G>A XP_011508218.1:p.Arg28His
XM_011509917.1:c.83G>A XP_011508219.1:p.Arg28His
XM_011509918.1:c.83G>A XP_011508220.1:p.Arg28His
XM_011509919.1:c.83G>A XP_011508221.1:p.Arg28His
XR_921911.1:n.196G>A
XR_921912.1:n.201G>A
NM_003126.3:c.83G>A NP_003117.2:p.Arg28His
XM_011509916.2:c.83G>A XP_011508218.1:p.Arg28His
XM_011509917.3:c.83G>A XP_011508219.1:p.Arg28His
XM_011509918.3:c.83G>A XP_011508220.1:p.Arg28His
XM_011509919.3:c.83G>A XP_011508221.1:p.Arg28His
XR_921911.3:n.209G>A
XR_921912.2:n.211G>A
NM_003126.4:c.83G>A MANE Select NP_003117.2:p.Arg28His
Search 100 bp 5'
Search 100 bp 3'