Canonical Allele Identifier: CA9375831
Gene: HAMP HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.35285003C>T
GRCh37 chr19:g.35775906C>T
gnomAD v2:
19:35775906 C / T
gnomAD v4:
chr19-35285003-C-T
Joint Max Group AF 0.00002104 (SAS)
Exomes Max Group AF 0.00002194 (SAS)
ClinVar RCV:
RCV003588129
ClinVar Variation:
2726029
dbSNP:
763369315
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35285003C>T , CM000681.2:g.35285003C>T GRCh38
NC_000019.9:g.35775906C>T , CM000681.1:g.35775906C>T GRCh37
NC_000019.8:g.40467746C>T NCBI36
NG_011563.1:g.7497C>T
NG_011563.2:g.7497C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222304.5:c.216C>T MANE Select ENSP00000222304.2:p.Cys72=
ENST00000222304.3:c.216C>T ENSP00000222304.2:p.Cys72=
ENST00000593580.1:n.2487C>T
ENST00000598398.5:c.216C>T ENSP00000471894.1:p.Cys72=
NM_021175.2:c.216C>T NP_066998.1:p.Cys72=
NM_021175.3:c.216C>T NP_066998.1:p.Cys72=
NM_021175.4:c.216C>T MANE Select NP_066998.1:p.Cys72=
Search 100 bp 5'
Search 100 bp 3'