Canonical Allele Identifier: CA490314061

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534640G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242443G>A , CM000677.2:g.50242443G>A	GRCh38
NC_000015.9:g.50534640G>A , CM000677.1:g.50534640G>A	GRCh37
NC_000015.8:g.48321932G>A	NCBI36
NG_027487.1:g.28523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1806C>T MANE Select	ENSP00000267845.3:p.Ala602=
ENST00000267845.7:c.1806C>T	ENSP00000267845.3:p.Ala602=
ENST00000543581.5:c.1707C>T	ENSP00000440252.1:p.Ala569=
ENST00000559816.1:n.1550C>T
NM_001306146.1:c.1707C>T	NP_001293075.1:p.Ala569=
NM_002112.3:c.1806C>T	NP_002103.2:p.Ala602=
XM_011521479.1:c.1569C>T	XP_011519781.1:p.Ala523=
XM_011521480.1:c.1374C>T	XP_011519782.1:p.Ala458=
XM_017022094.1:c.1911C>T	XP_016877583.1:p.Ala637=
XM_017022095.1:c.1812C>T	XP_016877584.1:p.Ala604=
XM_017022096.1:c.1683C>T	XP_016877585.1:p.Ala561=
XM_017022097.1:c.1674C>T	XP_016877586.1:p.Ala558=
XM_017022098.1:c.1479C>T	XP_016877587.1:p.Ala493=
NM_002112.4:c.1806C>T MANE Select	NP_002103.2:p.Ala602=
NM_001306146.2:c.1707C>T	NP_001293075.1:p.Ala569=