Canonical Allele Identifier: CA405300806

Gene: HAMP

Linked Data

• MyVariant Identifiers: chr19:g.35775735C>T (hg19) ; chr19:g.35284832C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35284832C>T , CM000681.2:g.35284832C>T	GRCh38
NC_000019.9:g.35775735C>T , CM000681.1:g.35775735C>T	GRCh37
NC_000019.8:g.40467575C>T	NCBI36
NG_011563.1:g.7326C>T
NG_011563.2:g.7326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222304.5:c.134C>T MANE Select	ENSP00000222304.2:p.Ala45Val
ENST00000222304.3:c.134C>T	ENSP00000222304.2:p.Ala45Val
ENST00000593580.1:n.2316C>T
ENST00000598398.5:c.134C>T	ENSP00000471894.1:p.Ala45Val
NM_021175.2:c.134C>T	NP_066998.1:p.Ala45Val
NM_021175.3:c.134C>T	NP_066998.1:p.Ala45Val
NM_021175.4:c.134C>T MANE Select	NP_066998.1:p.Ala45Val