Canonical Allele Identifier: CA392376889

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534573G>T (hg19) ; chr15:g.50242376G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242376G>T , CM000677.2:g.50242376G>T	GRCh38
NC_000015.9:g.50534573G>T , CM000677.1:g.50534573G>T	GRCh37
NC_000015.8:g.48321865G>T	NCBI36
NG_027487.1:g.28590C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1873C>A MANE Select	ENSP00000267845.3:p.Leu625Met
ENST00000267845.7:c.1873C>A	ENSP00000267845.3:p.Leu625Met
ENST00000543581.5:c.1774C>A	ENSP00000440252.1:p.Leu592Met
ENST00000559816.1:n.1617C>A
NM_001306146.1:c.1774C>A	NP_001293075.1:p.Leu592Met
NM_002112.3:c.1873C>A	NP_002103.2:p.Leu625Met
XM_011521479.1:c.1636C>A	XP_011519781.1:p.Leu546Met
XM_011521480.1:c.1441C>A	XP_011519782.1:p.Leu481Met
XM_017022094.1:c.1978C>A	XP_016877583.1:p.Leu660Met
XM_017022095.1:c.1879C>A	XP_016877584.1:p.Leu627Met
XM_017022096.1:c.1750C>A	XP_016877585.1:p.Leu584Met
XM_017022097.1:c.1741C>A	XP_016877586.1:p.Leu581Met
XM_017022098.1:c.1546C>A	XP_016877587.1:p.Leu516Met
NM_002112.4:c.1873C>A MANE Select	NP_002103.2:p.Leu625Met
NM_001306146.2:c.1774C>A	NP_001293075.1:p.Leu592Met