Canonical Allele Identifier: CA490314012

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534610G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242413G>A , CM000677.2:g.50242413G>A	GRCh38
NC_000015.9:g.50534610G>A , CM000677.1:g.50534610G>A	GRCh37
NC_000015.8:g.48321902G>A	NCBI36
NG_027487.1:g.28553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1836C>T MANE Select	ENSP00000267845.3:p.Val612=
ENST00000267845.7:c.1836C>T	ENSP00000267845.3:p.Val612=
ENST00000543581.5:c.1737C>T	ENSP00000440252.1:p.Val579=
ENST00000559816.1:n.1580C>T
NM_001306146.1:c.1737C>T	NP_001293075.1:p.Val579=
NM_002112.3:c.1836C>T	NP_002103.2:p.Val612=
XM_011521479.1:c.1599C>T	XP_011519781.1:p.Val533=
XM_011521480.1:c.1404C>T	XP_011519782.1:p.Val468=
XM_017022094.1:c.1941C>T	XP_016877583.1:p.Val647=
XM_017022095.1:c.1842C>T	XP_016877584.1:p.Val614=
XM_017022096.1:c.1713C>T	XP_016877585.1:p.Val571=
XM_017022097.1:c.1704C>T	XP_016877586.1:p.Val568=
XM_017022098.1:c.1509C>T	XP_016877587.1:p.Val503=
NM_002112.4:c.1836C>T MANE Select	NP_002103.2:p.Val612=
NM_001306146.2:c.1737C>T	NP_001293075.1:p.Val579=