Canonical Allele Identifier: CA1182023
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158620209C>A
GRCh37 chr1:g.158589999C>A
gnomAD v2:
1:158589999 C / A
gnomAD v3:
1:158620209 C / A
gnomAD v4:
chr1-158620209-C-A
Joint Max Group AF 0.00042037 (NFE)
Genomes Max Group AF 0.00021801 (NFE)
Exomes Max Group AF 0.00042717 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158620209C>A , CM000663.2:g.158620209C>A GRCh38
NC_000001.10:g.158589999C>A , CM000663.1:g.158589999C>A GRCh37
NC_000001.9:g.156856623C>A NCBI36
NG_011474.1:g.71508G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.6378G>T MANE Select ENSP00000495214.1:p.Val2126=
ENST00000368147.8:c.6378G>T ENSP00000357129.4:p.Val2126=
ENST00000484520.1:n.581G>T
ENST00000614909.4:c.6378G>T ENSP00000482595.1:p.Val2126=
NM_003126.2:c.6378G>T NP_003117.2:p.Val2126=
XM_011509916.1:c.6378G>T XP_011508218.1:p.Val2126=
XM_011509917.1:c.6378G>T XP_011508219.1:p.Val2126=
NM_003126.3:c.6378G>T NP_003117.2:p.Val2126=
XM_011509916.2:c.6378G>T XP_011508218.1:p.Val2126=
XM_011509917.3:c.6378G>T XP_011508219.1:p.Val2126=
NM_003126.4:c.6378G>T MANE Select NP_003117.2:p.Val2126=
Search 100 bp 5'
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