Canonical Allele Identifier: CA7554511

Gene: HDC

Linked Data

• dbSNP Id: rs768113768
• ExAC: 15:50534742 G / A
• gnomAD v2: 15-50534742-G-A
• gnomAD v4: 15-50242545-G-A
• MyVariant Identifiers: chr15:g.50534742G>A (hg19) ; chr15:g.50242545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242545G>A , CM000677.2:g.50242545G>A	GRCh38
NC_000015.9:g.50534742G>A , CM000677.1:g.50534742G>A	GRCh37
NC_000015.8:g.48322034G>A	NCBI36
NG_027487.1:g.28421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1704C>T MANE Select	ENSP00000267845.3:p.Phe568=
ENST00000267845.7:c.1704C>T	ENSP00000267845.3:p.Phe568=
ENST00000543581.5:c.1605C>T	ENSP00000440252.1:p.Phe535=
ENST00000559816.1:n.1448C>T
NM_001306146.1:c.1605C>T	NP_001293075.1:p.Phe535=
NM_002112.3:c.1704C>T	NP_002103.2:p.Phe568=
XM_011521479.1:c.1467C>T	XP_011519781.1:p.Phe489=
XM_011521480.1:c.1272C>T	XP_011519782.1:p.Phe424=
XM_017022094.1:c.1809C>T	XP_016877583.1:p.Phe603=
XM_017022095.1:c.1710C>T	XP_016877584.1:p.Phe570=
XM_017022096.1:c.1581C>T	XP_016877585.1:p.Phe527=
XM_017022097.1:c.1572C>T	XP_016877586.1:p.Phe524=
XM_017022098.1:c.1377C>T	XP_016877587.1:p.Phe459=
NM_002112.4:c.1704C>T MANE Select	NP_002103.2:p.Phe568=
NM_001306146.2:c.1605C>T	NP_001293075.1:p.Phe535=