Canonical Allele Identifier: CA507041738
Gene: HAMP HGNC NCBI

Linked Data

ClinVar Variation Id: 2697239
ClinVar RCV Id: RCV003589567
dbSNP Id: rs1344639816
gnomAD v2: 19-35775918-A-C
gnomAD v4: 19-35285015-A-C
MyVariant Identifiers: chr19:g.35775918A>C (hg19) chr19:g.35285015A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35285015A>C , CM000681.2:g.35285015A>C GRCh38
NC_000019.9:g.35775918A>C , CM000681.1:g.35775918A>C GRCh37
NC_000019.8:g.40467758A>C NCBI36
NG_011563.1:g.7509A>C
NG_011563.2:g.7509A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222304.5:c.228A>C MANE Select ENSP00000222304.2:p.Ser76=
ENST00000222304.3:c.228A>C ENSP00000222304.2:p.Ser76=
ENST00000593580.1:n.2499A>C
ENST00000598398.5:c.228A>C ENSP00000471894.1:p.Ser76=
NM_021175.2:c.228A>C NP_066998.1:p.Ser76=
NM_021175.3:c.228A>C NP_066998.1:p.Ser76=
NM_021175.4:c.228A>C MANE Select NP_066998.1:p.Ser76=
Search 100 bp 5'
Search 100 bp 3'