Canonical Allele Identifier: CA490313911

Gene: HDC

Linked Data

• gnomAD v4: 15-50242332-G-T
• COSMIC: COSM6042867
• MyVariant Identifiers: chr15:g.50534529G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242332G>T , CM000677.2:g.50242332G>T	GRCh38
NC_000015.9:g.50534529G>T , CM000677.1:g.50534529G>T	GRCh37
NC_000015.8:g.48321821G>T	NCBI36
NG_027487.1:g.28634C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1917C>A MANE Select	ENSP00000267845.3:p.Val639=
ENST00000267845.7:c.1917C>A	ENSP00000267845.3:p.Val639=
ENST00000543581.5:c.1818C>A	ENSP00000440252.1:p.Val606=
ENST00000559816.1:n.1661C>A
NM_001306146.1:c.1818C>A	NP_001293075.1:p.Val606=
NM_002112.3:c.1917C>A	NP_002103.2:p.Val639=
XM_011521479.1:c.1680C>A	XP_011519781.1:p.Val560=
XM_011521480.1:c.1485C>A	XP_011519782.1:p.Val495=
XM_017022094.1:c.2022C>A	XP_016877583.1:p.Val674=
XM_017022095.1:c.1923C>A	XP_016877584.1:p.Val641=
XM_017022096.1:c.1794C>A	XP_016877585.1:p.Val598=
XM_017022097.1:c.1785C>A	XP_016877586.1:p.Val595=
XM_017022098.1:c.1590C>A	XP_016877587.1:p.Val530=
NM_002112.4:c.1917C>A MANE Select	NP_002103.2:p.Val639=
NM_001306146.2:c.1818C>A	NP_001293075.1:p.Val606=