Canonical Allele Identifier: CA392376919

Gene: HDC

Linked Data

• gnomAD v4: 15-50242388-C-G
• MyVariant Identifiers: chr15:g.50534585C>G (hg19) ; chr15:g.50242388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242388C>G , CM000677.2:g.50242388C>G	GRCh38
NC_000015.9:g.50534585C>G , CM000677.1:g.50534585C>G	GRCh37
NC_000015.8:g.48321877C>G	NCBI36
NG_027487.1:g.28578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1861G>C MANE Select	ENSP00000267845.3:p.Asp621His
ENST00000267845.7:c.1861G>C	ENSP00000267845.3:p.Asp621His
ENST00000543581.5:c.1762G>C	ENSP00000440252.1:p.Asp588His
ENST00000559816.1:n.1605G>C
NM_001306146.1:c.1762G>C	NP_001293075.1:p.Asp588His
NM_002112.3:c.1861G>C	NP_002103.2:p.Asp621His
XM_011521479.1:c.1624G>C	XP_011519781.1:p.Asp542His
XM_011521480.1:c.1429G>C	XP_011519782.1:p.Asp477His
XM_017022094.1:c.1966G>C	XP_016877583.1:p.Asp656His
XM_017022095.1:c.1867G>C	XP_016877584.1:p.Asp623His
XM_017022096.1:c.1738G>C	XP_016877585.1:p.Asp580His
XM_017022097.1:c.1729G>C	XP_016877586.1:p.Asp577His
XM_017022098.1:c.1534G>C	XP_016877587.1:p.Asp512His
NM_002112.4:c.1861G>C MANE Select	NP_002103.2:p.Asp621His
NM_001306146.2:c.1762G>C	NP_001293075.1:p.Asp588His