Canonical Allele Identifier: CA392376807

Gene: HDC

Linked Data

• dbSNP Id: rs1484167434
• gnomAD v4: 15-50242341-G-C
• MyVariant Identifiers: chr15:g.50534538G>C (hg19) ; chr15:g.50242341G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242341G>C , CM000677.2:g.50242341G>C	GRCh38
NC_000015.9:g.50534538G>C , CM000677.1:g.50534538G>C	GRCh37
NC_000015.8:g.48321830G>C	NCBI36
NG_027487.1:g.28625C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1908C>G MANE Select	ENSP00000267845.3:p.Phe636Leu
ENST00000267845.7:c.1908C>G	ENSP00000267845.3:p.Phe636Leu
ENST00000543581.5:c.1809C>G	ENSP00000440252.1:p.Phe603Leu
ENST00000559816.1:n.1652C>G
NM_001306146.1:c.1809C>G	NP_001293075.1:p.Phe603Leu
NM_002112.3:c.1908C>G	NP_002103.2:p.Phe636Leu
XM_011521479.1:c.1671C>G	XP_011519781.1:p.Phe557Leu
XM_011521480.1:c.1476C>G	XP_011519782.1:p.Phe492Leu
XM_017022094.1:c.2013C>G	XP_016877583.1:p.Phe671Leu
XM_017022095.1:c.1914C>G	XP_016877584.1:p.Phe638Leu
XM_017022096.1:c.1785C>G	XP_016877585.1:p.Phe595Leu
XM_017022097.1:c.1776C>G	XP_016877586.1:p.Phe592Leu
XM_017022098.1:c.1581C>G	XP_016877587.1:p.Phe527Leu
NM_002112.4:c.1908C>G MANE Select	NP_002103.2:p.Phe636Leu
NM_001306146.2:c.1809C>G	NP_001293075.1:p.Phe603Leu