Canonical Allele Identifier: CA392377244

Gene: HDC

Linked Data

• gnomAD v4: 15-50242541-A-G
• COSMIC: COSM257093
• MyVariant Identifiers: chr15:g.50534738A>G (hg19) ; chr15:g.50242541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242541A>G , CM000677.2:g.50242541A>G	GRCh38
NC_000015.9:g.50534738A>G , CM000677.1:g.50534738A>G	GRCh37
NC_000015.8:g.48322030A>G	NCBI36
NG_027487.1:g.28425T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1708T>C MANE Select	ENSP00000267845.3:p.Phe570Leu
ENST00000267845.7:c.1708T>C	ENSP00000267845.3:p.Phe570Leu
ENST00000543581.5:c.1609T>C	ENSP00000440252.1:p.Phe537Leu
ENST00000559816.1:n.1452T>C
NM_001306146.1:c.1609T>C	NP_001293075.1:p.Phe537Leu
NM_002112.3:c.1708T>C	NP_002103.2:p.Phe570Leu
XM_011521479.1:c.1471T>C	XP_011519781.1:p.Phe491Leu
XM_011521480.1:c.1276T>C	XP_011519782.1:p.Phe426Leu
XM_017022094.1:c.1813T>C	XP_016877583.1:p.Phe605Leu
XM_017022095.1:c.1714T>C	XP_016877584.1:p.Phe572Leu
XM_017022096.1:c.1585T>C	XP_016877585.1:p.Phe529Leu
XM_017022097.1:c.1576T>C	XP_016877586.1:p.Phe526Leu
XM_017022098.1:c.1381T>C	XP_016877587.1:p.Phe461Leu
NM_002112.4:c.1708T>C MANE Select	NP_002103.2:p.Phe570Leu
NM_001306146.2:c.1609T>C	NP_001293075.1:p.Phe537Leu