Canonical Allele Identifier: CA9375842
Gene: HAMP HGNC NCBI

Linked Data

dbSNP Id: rs367555049
ExAC: 19:35775965 C / T
gnomAD v2: 19-35775965-C-T
gnomAD v3: 19-35285062-C-T
gnomAD v4: 19-35285062-C-T
MyVariant Identifiers: chr19:g.35775965C>T (hg19) chr19:g.35285062C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35285062C>T , CM000681.2:g.35285062C>T GRCh38
NC_000019.9:g.35775965C>T , CM000681.1:g.35775965C>T GRCh37
NC_000019.8:g.40467805C>T NCBI36
NG_011563.1:g.7556C>T
NG_011563.2:g.7556C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222304.5:c.*20C>T MANE Select ENSP00000222304.2:n.*20C>T
ENST00000222304.3:c.*20C>T ENSP00000222304.2:n.*20C>T
ENST00000593580.1:n.2546C>T
ENST00000598398.5:c.*20C>T ENSP00000471894.1:n.*20C>T
NM_021175.2:c.*20C>T NP_066998.1:n.*20C>T
NM_021175.3:c.*20C>T NP_066998.1:n.*20C>T
NM_021175.4:c.*20C>T MANE Select NP_066998.1:n.*20C>T
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