Canonical Allele Identifier: CA392376851

Gene: HDC

Linked Data

• dbSNP Id: rs1471890215
• gnomAD v4: 15-50242359-G-T
• MyVariant Identifiers: chr15:g.50534556G>T (hg19) ; chr15:g.50242359G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242359G>T , CM000677.2:g.50242359G>T	GRCh38
NC_000015.9:g.50534556G>T , CM000677.1:g.50534556G>T	GRCh37
NC_000015.8:g.48321848G>T	NCBI36
NG_027487.1:g.28607C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1890C>A MANE Select	ENSP00000267845.3:p.Phe630Leu
ENST00000267845.7:c.1890C>A	ENSP00000267845.3:p.Phe630Leu
ENST00000543581.5:c.1791C>A	ENSP00000440252.1:p.Phe597Leu
ENST00000559816.1:n.1634C>A
NM_001306146.1:c.1791C>A	NP_001293075.1:p.Phe597Leu
NM_002112.3:c.1890C>A	NP_002103.2:p.Phe630Leu
XM_011521479.1:c.1653C>A	XP_011519781.1:p.Phe551Leu
XM_011521480.1:c.1458C>A	XP_011519782.1:p.Phe486Leu
XM_017022094.1:c.1995C>A	XP_016877583.1:p.Phe665Leu
XM_017022095.1:c.1896C>A	XP_016877584.1:p.Phe632Leu
XM_017022096.1:c.1767C>A	XP_016877585.1:p.Phe589Leu
XM_017022097.1:c.1758C>A	XP_016877586.1:p.Phe586Leu
XM_017022098.1:c.1563C>A	XP_016877587.1:p.Phe521Leu
NM_002112.4:c.1890C>A MANE Select	NP_002103.2:p.Phe630Leu
NM_001306146.2:c.1791C>A	NP_001293075.1:p.Phe597Leu