Canonical Allele Identifier: CA392377208

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534723C>G (hg19) ; chr15:g.50242526C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242526C>G , CM000677.2:g.50242526C>G	GRCh38
NC_000015.9:g.50534723C>G , CM000677.1:g.50534723C>G	GRCh37
NC_000015.8:g.48322015C>G	NCBI36
NG_027487.1:g.28440G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1723G>C MANE Select	ENSP00000267845.3:p.Val575Leu
ENST00000267845.7:c.1723G>C	ENSP00000267845.3:p.Val575Leu
ENST00000543581.5:c.1624G>C	ENSP00000440252.1:p.Val542Leu
ENST00000559816.1:n.1467G>C
NM_001306146.1:c.1624G>C	NP_001293075.1:p.Val542Leu
NM_002112.3:c.1723G>C	NP_002103.2:p.Val575Leu
XM_011521479.1:c.1486G>C	XP_011519781.1:p.Val496Leu
XM_011521480.1:c.1291G>C	XP_011519782.1:p.Val431Leu
XM_017022094.1:c.1828G>C	XP_016877583.1:p.Val610Leu
XM_017022095.1:c.1729G>C	XP_016877584.1:p.Val577Leu
XM_017022096.1:c.1600G>C	XP_016877585.1:p.Val534Leu
XM_017022097.1:c.1591G>C	XP_016877586.1:p.Val531Leu
XM_017022098.1:c.1396G>C	XP_016877587.1:p.Val466Leu
NM_002112.4:c.1723G>C MANE Select	NP_002103.2:p.Val575Leu
NM_001306146.2:c.1624G>C	NP_001293075.1:p.Val542Leu