Canonical Allele Identifier: CA392376978

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534612C>G (hg19) ; chr15:g.50242415C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242415C>G , CM000677.2:g.50242415C>G	GRCh38
NC_000015.9:g.50534612C>G , CM000677.1:g.50534612C>G	GRCh37
NC_000015.8:g.48321904C>G	NCBI36
NG_027487.1:g.28551G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1834G>C MANE Select	ENSP00000267845.3:p.Val612Leu
ENST00000267845.7:c.1834G>C	ENSP00000267845.3:p.Val612Leu
ENST00000543581.5:c.1735G>C	ENSP00000440252.1:p.Val579Leu
ENST00000559816.1:n.1578G>C
NM_001306146.1:c.1735G>C	NP_001293075.1:p.Val579Leu
NM_002112.3:c.1834G>C	NP_002103.2:p.Val612Leu
XM_011521479.1:c.1597G>C	XP_011519781.1:p.Val533Leu
XM_011521480.1:c.1402G>C	XP_011519782.1:p.Val468Leu
XM_017022094.1:c.1939G>C	XP_016877583.1:p.Val647Leu
XM_017022095.1:c.1840G>C	XP_016877584.1:p.Val614Leu
XM_017022096.1:c.1711G>C	XP_016877585.1:p.Val571Leu
XM_017022097.1:c.1702G>C	XP_016877586.1:p.Val568Leu
XM_017022098.1:c.1507G>C	XP_016877587.1:p.Val503Leu
NM_002112.4:c.1834G>C MANE Select	NP_002103.2:p.Val612Leu
NM_001306146.2:c.1735G>C	NP_001293075.1:p.Val579Leu