Canonical Allele Identifier: CA392377006

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534627C>T (hg19) ; chr15:g.50242430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242430C>T , CM000677.2:g.50242430C>T	GRCh38
NC_000015.9:g.50534627C>T , CM000677.1:g.50534627C>T	GRCh37
NC_000015.8:g.48321919C>T	NCBI36
NG_027487.1:g.28536G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1819G>A MANE Select	ENSP00000267845.3:p.Gly607Arg
ENST00000267845.7:c.1819G>A	ENSP00000267845.3:p.Gly607Arg
ENST00000543581.5:c.1720G>A	ENSP00000440252.1:p.Gly574Arg
ENST00000559816.1:n.1563G>A
NM_001306146.1:c.1720G>A	NP_001293075.1:p.Gly574Arg
NM_002112.3:c.1819G>A	NP_002103.2:p.Gly607Arg
XM_011521479.1:c.1582G>A	XP_011519781.1:p.Gly528Arg
XM_011521480.1:c.1387G>A	XP_011519782.1:p.Gly463Arg
XM_017022094.1:c.1924G>A	XP_016877583.1:p.Gly642Arg
XM_017022095.1:c.1825G>A	XP_016877584.1:p.Gly609Arg
XM_017022096.1:c.1696G>A	XP_016877585.1:p.Gly566Arg
XM_017022097.1:c.1687G>A	XP_016877586.1:p.Gly563Arg
XM_017022098.1:c.1492G>A	XP_016877587.1:p.Gly498Arg
NM_002112.4:c.1819G>A MANE Select	NP_002103.2:p.Gly607Arg
NM_001306146.2:c.1720G>A	NP_001293075.1:p.Gly574Arg