Canonical Allele Identifier: CA392377002

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534626C>A (hg19) ; chr15:g.50242429C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242429C>A , CM000677.2:g.50242429C>A	GRCh38
NC_000015.9:g.50534626C>A , CM000677.1:g.50534626C>A	GRCh37
NC_000015.8:g.48321918C>A	NCBI36
NG_027487.1:g.28537G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1820G>T MANE Select	ENSP00000267845.3:p.Gly607Val
ENST00000267845.7:c.1820G>T	ENSP00000267845.3:p.Gly607Val
ENST00000543581.5:c.1721G>T	ENSP00000440252.1:p.Gly574Val
ENST00000559816.1:n.1564G>T
NM_001306146.1:c.1721G>T	NP_001293075.1:p.Gly574Val
NM_002112.3:c.1820G>T	NP_002103.2:p.Gly607Val
XM_011521479.1:c.1583G>T	XP_011519781.1:p.Gly528Val
XM_011521480.1:c.1388G>T	XP_011519782.1:p.Gly463Val
XM_017022094.1:c.1925G>T	XP_016877583.1:p.Gly642Val
XM_017022095.1:c.1826G>T	XP_016877584.1:p.Gly609Val
XM_017022096.1:c.1697G>T	XP_016877585.1:p.Gly566Val
XM_017022097.1:c.1688G>T	XP_016877586.1:p.Gly563Val
XM_017022098.1:c.1493G>T	XP_016877587.1:p.Gly498Val
NM_002112.4:c.1820G>T MANE Select	NP_002103.2:p.Gly607Val
NM_001306146.2:c.1721G>T	NP_001293075.1:p.Gly574Val