Canonical Allele Identifier: CA340226
Gene: HAMP HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.35284999G>A
GRCh37 chr19:g.35775902G>A
Revel Score:
ENST00000222304 (MANE Select) 0.566
gnomAD v2:
19:35775902 G / A
gnomAD v3:
19:35284999 G / A
gnomAD v4:
chr19-35284999-G-A
Joint Max Group AF 0.00315668 (NFE)
Genomes Max Group AF 0.00284245 (NFE)
Exomes Max Group AF 0.00315739 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35284999G>A , CM000681.2:g.35284999G>A GRCh38
NC_000019.9:g.35775902G>A , CM000681.1:g.35775902G>A GRCh37
NC_000019.8:g.40467742G>A NCBI36
NG_011563.1:g.7493G>A
NG_011563.2:g.7493G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222304.5:c.212G>A MANE Select ENSP00000222304.2:p.Gly71Asp
ENST00000222304.3:c.212G>A ENSP00000222304.2:p.Gly71Asp
ENST00000593580.1:n.2483G>A
ENST00000598398.5:c.212G>A ENSP00000471894.1:p.Gly71Asp
NM_021175.2:c.212G>A NP_066998.1:p.Gly71Asp
NM_021175.3:c.212G>A NP_066998.1:p.Gly71Asp
NM_021175.4:c.212G>A MANE Select NP_066998.1:p.Gly71Asp
Search 100 bp 5'
Search 100 bp 3'