Canonical Allele Identifier: CA253053

Gene: HAMP

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35284953C>T , CM000681.2:g.35284953C>T	GRCh38
NC_000019.9:g.35775856C>T , CM000681.1:g.35775856C>T	GRCh37
NC_000019.8:g.40467696C>T	NCBI36
NG_011563.1:g.7447C>T
NG_011563.2:g.7447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222304.5:c.166C>T MANE Select	ENSP00000222304.2:p.Arg56Ter
ENST00000222304.3:c.166C>T	ENSP00000222304.2:p.Arg56Ter
ENST00000593580.1:n.2437C>T
ENST00000598398.5:c.166C>T	ENSP00000471894.1:p.Arg56Ter
NM_021175.2:c.166C>T	NP_066998.1:p.Arg56Ter
NM_021175.3:c.166C>T	NP_066998.1:p.Arg56Ter
NM_021175.4:c.166C>T MANE Select	NP_066998.1:p.Arg56Ter