Canonical Allele Identifier: CA199561
Gene: HPCA HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.32893848G>A
GRCh37 chr1:g.33359449G>A
Revel Score:
ENST00000373467 (MANE Select) 0.100
gnomAD v2:
1:33359449 G / A
gnomAD v3:
1:32893848 G / A
gnomAD v4:
chr1-32893848-G-A
Joint Max Group AF 0.00315066 (SAS)
Genomes Max Group AF 0.00159283 (SAS)
Exomes Max Group AF 0.00318657 (SAS)
ClinVar RCV:
RCV000170354
RCV002054018
ClinVar Variation:
190120
dbSNP:
550921485
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32893848G>A , CM000663.2:g.32893848G>A GRCh38
NC_000001.10:g.33359449G>A , CM000663.1:g.33359449G>A GRCh37
NC_000001.9:g.33132036G>A NCBI36
NG_042176.1:g.12762G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373467.4:c.568G>A MANE Select ENSP00000362566.3:p.Ala190Thr
ENST00000373467.3:c.568G>A ENSP00000362566.3:p.Ala190Thr
ENST00000459874.5:n.244G>A
ENST00000470166.5:n.316G>A
ENST00000470896.1:n.106+219G>A
NM_002143.2:c.568G>A NP_002134.2:p.Ala190Thr
XM_005270792.1:c.568G>A XP_005270849.1:p.Ala190Thr
XM_005270792.3:c.568G>A XP_005270849.1:p.Ala190Thr
XM_017001118.2:c.568G>A XP_016856607.1:p.Ala190Thr
NM_002143.3:c.568G>A MANE Select NP_002134.2:p.Ala190Thr
Search 100 bp 5'
Search 100 bp 3'