Canonical Allele Identifier: CA392377158

Gene: HDC

Linked Data

• gnomAD v4: 15-50242504-A-G
• MyVariant Identifiers: chr15:g.50534701A>G (hg19) ; chr15:g.50242504A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242504A>G , CM000677.2:g.50242504A>G	GRCh38
NC_000015.9:g.50534701A>G , CM000677.1:g.50534701A>G	GRCh37
NC_000015.8:g.48321993A>G	NCBI36
NG_027487.1:g.28462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1745T>C MANE Select	ENSP00000267845.3:p.Val582Ala
ENST00000267845.7:c.1745T>C	ENSP00000267845.3:p.Val582Ala
ENST00000543581.5:c.1646T>C	ENSP00000440252.1:p.Val549Ala
ENST00000559816.1:n.1489T>C
NM_001306146.1:c.1646T>C	NP_001293075.1:p.Val549Ala
NM_002112.3:c.1745T>C	NP_002103.2:p.Val582Ala
XM_011521479.1:c.1508T>C	XP_011519781.1:p.Val503Ala
XM_011521480.1:c.1313T>C	XP_011519782.1:p.Val438Ala
XM_017022094.1:c.1850T>C	XP_016877583.1:p.Val617Ala
XM_017022095.1:c.1751T>C	XP_016877584.1:p.Val584Ala
XM_017022096.1:c.1622T>C	XP_016877585.1:p.Val541Ala
XM_017022097.1:c.1613T>C	XP_016877586.1:p.Val538Ala
XM_017022098.1:c.1418T>C	XP_016877587.1:p.Val473Ala
NM_002112.4:c.1745T>C MANE Select	NP_002103.2:p.Val582Ala
NM_001306146.2:c.1646T>C	NP_001293075.1:p.Val549Ala