Canonical Allele Identifier: CA9375817

Gene: HAMP

Linked Data

• ClinVar Variation Id: 3008271
• ClinVar RCV Id: RCV003866934
• dbSNP Id: rs780533179
• ExAC: 19:35775825 C / G
• gnomAD v2: 19-35775825-C-G
• gnomAD v3: 19-35284922-C-G
• gnomAD v4: 19-35284922-C-G
• MyVariant Identifiers: chr19:g.35775825C>G (hg19) ; chr19:g.35284922C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35284922C>G , CM000681.2:g.35284922C>G	GRCh38
NC_000019.9:g.35775825C>G , CM000681.1:g.35775825C>G	GRCh37
NC_000019.8:g.40467665C>G	NCBI36
NG_011563.1:g.7416C>G
NG_011563.2:g.7416C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222304.5:c.151-16C>G MANE Select	ENSP00000222304.2:n.151-16C>G
ENST00000222304.3:c.151-16C>G	ENSP00000222304.2:n.151-16C>G
ENST00000593580.1:n.2406C>G
ENST00000598398.5:c.151-16C>G	ENSP00000471894.1:n.151-16C>G
NM_021175.2:c.151-16C>G	NP_066998.1:n.151-16C>G
NM_021175.3:c.151-16C>G	NP_066998.1:n.151-16C>G
NM_021175.4:c.151-16C>G MANE Select	NP_066998.1:n.151-16C>G