Canonical Allele Identifier: CA490314281

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534772T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242575T>A , CM000677.2:g.50242575T>A	GRCh38
NC_000015.9:g.50534772T>A , CM000677.1:g.50534772T>A	GRCh37
NC_000015.8:g.48322064T>A	NCBI36
NG_027487.1:g.28391A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1674A>T MANE Select	ENSP00000267845.3:p.Pro558=
ENST00000267845.7:c.1674A>T	ENSP00000267845.3:p.Pro558=
ENST00000543581.5:c.1575A>T	ENSP00000440252.1:p.Pro525=
ENST00000559816.1:n.1418A>T
NM_001306146.1:c.1575A>T	NP_001293075.1:p.Pro525=
NM_002112.3:c.1674A>T	NP_002103.2:p.Pro558=
XM_011521479.1:c.1437A>T	XP_011519781.1:p.Pro479=
XM_011521480.1:c.1242A>T	XP_011519782.1:p.Pro414=
XM_017022094.1:c.1779A>T	XP_016877583.1:p.Pro593=
XM_017022095.1:c.1680A>T	XP_016877584.1:p.Pro560=
XM_017022096.1:c.1551A>T	XP_016877585.1:p.Pro517=
XM_017022097.1:c.1542A>T	XP_016877586.1:p.Pro514=
XM_017022098.1:c.1347A>T	XP_016877587.1:p.Pro449=
NM_002112.4:c.1674A>T MANE Select	NP_002103.2:p.Pro558=
NM_001306146.2:c.1575A>T	NP_001293075.1:p.Pro525=