Canonical Allele Identifier: CA348327
Gene: HAMP HGNC NCBI

Linked Data

ClinVar Variation Id: 219838
ClinVar RCV Id: RCV001323308
dbSNP Id: rs375386964
ExAC: 19:35775757 C / T
gnomAD v2: 19-35775757-C-T
gnomAD v3: 19-35284854-C-T
gnomAD v4: 19-35284854-C-T
MyVariant Identifiers: chr19:g.35775757C>T (hg19) chr19:g.35284854C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35284854C>T , CM000681.2:g.35284854C>T GRCh38
NC_000019.9:g.35775757C>T , CM000681.1:g.35775757C>T GRCh37
NC_000019.8:g.40467597C>T NCBI36
NG_011563.1:g.7348C>T
NG_011563.2:g.7348C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222304.5:c.150+6C>T MANE Select ENSP00000222304.2:n.150+6C>T
ENST00000222304.3:c.150+6C>T ENSP00000222304.2:n.150+6C>T
ENST00000593580.1:n.2338C>T
ENST00000598398.5:c.150+6C>T ENSP00000471894.1:n.150+6C>T
NM_021175.2:c.150+6C>T NP_066998.1:n.150+6C>T
NM_021175.3:c.150+6C>T NP_066998.1:n.150+6C>T
NM_021175.4:c.150+6C>T MANE Select NP_066998.1:n.150+6C>T
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