Canonical Allele Identifier: CA392377098

Gene: HDC

Linked Data

• ClinVar Variation Id: 2267104
• ClinVar RCV Id: RCV004122990
• dbSNP Id: rs2045408919
• gnomAD v4: 15-50242474-A-G
• MyVariant Identifiers: chr15:g.50534671A>G (hg19) ; chr15:g.50242474A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242474A>G , CM000677.2:g.50242474A>G	GRCh38
NC_000015.9:g.50534671A>G , CM000677.1:g.50534671A>G	GRCh37
NC_000015.8:g.48321963A>G	NCBI36
NG_027487.1:g.28492T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1775T>C MANE Select	ENSP00000267845.3:p.Val592Ala
ENST00000267845.7:c.1775T>C	ENSP00000267845.3:p.Val592Ala
ENST00000543581.5:c.1676T>C	ENSP00000440252.1:p.Val559Ala
ENST00000559816.1:n.1519T>C
NM_001306146.1:c.1676T>C	NP_001293075.1:p.Val559Ala
NM_002112.3:c.1775T>C	NP_002103.2:p.Val592Ala
XM_011521479.1:c.1538T>C	XP_011519781.1:p.Val513Ala
XM_011521480.1:c.1343T>C	XP_011519782.1:p.Val448Ala
XM_017022094.1:c.1880T>C	XP_016877583.1:p.Val627Ala
XM_017022095.1:c.1781T>C	XP_016877584.1:p.Val594Ala
XM_017022096.1:c.1652T>C	XP_016877585.1:p.Val551Ala
XM_017022097.1:c.1643T>C	XP_016877586.1:p.Val548Ala
XM_017022098.1:c.1448T>C	XP_016877587.1:p.Val483Ala
NM_002112.4:c.1775T>C MANE Select	NP_002103.2:p.Val592Ala
NM_001306146.2:c.1676T>C	NP_001293075.1:p.Val559Ala