Canonical Allele Identifier: CA392376773

Gene: HDC

Linked Data

• gnomAD v4: 15-50242326-G-T
• MyVariant Identifiers: chr15:g.50534523G>T (hg19) ; chr15:g.50242326G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242326G>T , CM000677.2:g.50242326G>T	GRCh38
NC_000015.9:g.50534523G>T , CM000677.1:g.50534523G>T	GRCh37
NC_000015.8:g.48321815G>T	NCBI36
NG_027487.1:g.28640C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1923C>A MANE Select	ENSP00000267845.3:p.Ser641Arg
ENST00000267845.7:c.1923C>A	ENSP00000267845.3:p.Ser641Arg
ENST00000543581.5:c.1824C>A	ENSP00000440252.1:p.Ser608Arg
ENST00000559816.1:n.1667C>A
NM_001306146.1:c.1824C>A	NP_001293075.1:p.Ser608Arg
NM_002112.3:c.1923C>A	NP_002103.2:p.Ser641Arg
XM_011521479.1:c.1686C>A	XP_011519781.1:p.Ser562Arg
XM_011521480.1:c.1491C>A	XP_011519782.1:p.Ser497Arg
XM_017022094.1:c.2028C>A	XP_016877583.1:p.Ser676Arg
XM_017022095.1:c.1929C>A	XP_016877584.1:p.Ser643Arg
XM_017022096.1:c.1800C>A	XP_016877585.1:p.Ser600Arg
XM_017022097.1:c.1791C>A	XP_016877586.1:p.Ser597Arg
XM_017022098.1:c.1596C>A	XP_016877587.1:p.Ser532Arg
NM_002112.4:c.1923C>A MANE Select	NP_002103.2:p.Ser641Arg
NM_001306146.2:c.1824C>A	NP_001293075.1:p.Ser608Arg