Canonical Allele Identifier: CA9375814

Gene: HAMP

Linked Data

• dbSNP Id: rs763805707
• ExAC: 19:35775813 C / A
• gnomAD v2: 19-35775813-C-A
• gnomAD v4: 19-35284910-C-A
• MyVariant Identifiers: chr19:g.35775813C>A (hg19) ; chr19:g.35284910C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35284910C>A , CM000681.2:g.35284910C>A	GRCh38
NC_000019.9:g.35775813C>A , CM000681.1:g.35775813C>A	GRCh37
NC_000019.8:g.40467653C>A	NCBI36
NG_011563.1:g.7404C>A
NG_011563.2:g.7404C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222304.5:c.151-28C>A MANE Select	ENSP00000222304.2:n.151-28C>A
ENST00000222304.3:c.151-28C>A	ENSP00000222304.2:n.151-28C>A
ENST00000593580.1:n.2394C>A
ENST00000598398.5:c.151-28C>A	ENSP00000471894.1:n.151-28C>A
NM_021175.2:c.151-28C>A	NP_066998.1:n.151-28C>A
NM_021175.3:c.151-28C>A	NP_066998.1:n.151-28C>A
NM_021175.4:c.151-28C>A MANE Select	NP_066998.1:n.151-28C>A