Canonical Allele Identifier: CA490313949

Gene: HDC

Linked Data

• dbSNP Id: rs2045406222
• MyVariant Identifiers: chr15:g.50534559G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242362G>A , CM000677.2:g.50242362G>A	GRCh38
NC_000015.9:g.50534559G>A , CM000677.1:g.50534559G>A	GRCh37
NC_000015.8:g.48321851G>A	NCBI36
NG_027487.1:g.28604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1887C>T MANE Select	ENSP00000267845.3:p.Ala629=
ENST00000267845.7:c.1887C>T	ENSP00000267845.3:p.Ala629=
ENST00000543581.5:c.1788C>T	ENSP00000440252.1:p.Ala596=
ENST00000559816.1:n.1631C>T
NM_001306146.1:c.1788C>T	NP_001293075.1:p.Ala596=
NM_002112.3:c.1887C>T	NP_002103.2:p.Ala629=
XM_011521479.1:c.1650C>T	XP_011519781.1:p.Ala550=
XM_011521480.1:c.1455C>T	XP_011519782.1:p.Ala485=
XM_017022094.1:c.1992C>T	XP_016877583.1:p.Ala664=
XM_017022095.1:c.1893C>T	XP_016877584.1:p.Ala631=
XM_017022096.1:c.1764C>T	XP_016877585.1:p.Ala588=
XM_017022097.1:c.1755C>T	XP_016877586.1:p.Ala585=
XM_017022098.1:c.1560C>T	XP_016877587.1:p.Ala520=
NM_002112.4:c.1887C>T MANE Select	NP_002103.2:p.Ala629=
NM_001306146.2:c.1788C>T	NP_001293075.1:p.Ala596=