Canonical Allele Identifier: CA490314049

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534634C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242437C>G , CM000677.2:g.50242437C>G	GRCh38
NC_000015.9:g.50534634C>G , CM000677.1:g.50534634C>G	GRCh37
NC_000015.8:g.48321926C>G	NCBI36
NG_027487.1:g.28529G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1812G>C MANE Select	ENSP00000267845.3:p.Val604=
ENST00000267845.7:c.1812G>C	ENSP00000267845.3:p.Val604=
ENST00000543581.5:c.1713G>C	ENSP00000440252.1:p.Val571=
ENST00000559816.1:n.1556G>C
NM_001306146.1:c.1713G>C	NP_001293075.1:p.Val571=
NM_002112.3:c.1812G>C	NP_002103.2:p.Val604=
XM_011521479.1:c.1575G>C	XP_011519781.1:p.Val525=
XM_011521480.1:c.1380G>C	XP_011519782.1:p.Val460=
XM_017022094.1:c.1917G>C	XP_016877583.1:p.Val639=
XM_017022095.1:c.1818G>C	XP_016877584.1:p.Val606=
XM_017022096.1:c.1689G>C	XP_016877585.1:p.Val563=
XM_017022097.1:c.1680G>C	XP_016877586.1:p.Val560=
XM_017022098.1:c.1485G>C	XP_016877587.1:p.Val495=
NM_002112.4:c.1812G>C MANE Select	NP_002103.2:p.Val604=
NM_001306146.2:c.1713G>C	NP_001293075.1:p.Val571=