Canonical Allele Identifier: CA7554518

Gene: HDC

Linked Data

• dbSNP Id: rs766150542
• ExAC: 15:50534764 G / A
• gnomAD v3: 15-50242567-G-A
• gnomAD v4: 15-50242567-G-A
• COSMIC: COSM3501960
• MyVariant Identifiers: chr15:g.50534764G>A (hg19) ; chr15:g.50242567G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242567G>A , CM000677.2:g.50242567G>A	GRCh38
NC_000015.9:g.50534764G>A , CM000677.1:g.50534764G>A	GRCh37
NC_000015.8:g.48322056G>A	NCBI36
NG_027487.1:g.28399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1682C>T MANE Select	ENSP00000267845.3:p.Thr561Ile
ENST00000267845.7:c.1682C>T	ENSP00000267845.3:p.Thr561Ile
ENST00000543581.5:c.1583C>T	ENSP00000440252.1:p.Thr528Ile
ENST00000559816.1:n.1426C>T
NM_001306146.1:c.1583C>T	NP_001293075.1:p.Thr528Ile
NM_002112.3:c.1682C>T	NP_002103.2:p.Thr561Ile
XM_011521479.1:c.1445C>T	XP_011519781.1:p.Thr482Ile
XM_011521480.1:c.1250C>T	XP_011519782.1:p.Thr417Ile
XM_017022094.1:c.1787C>T	XP_016877583.1:p.Thr596Ile
XM_017022095.1:c.1688C>T	XP_016877584.1:p.Thr563Ile
XM_017022096.1:c.1559C>T	XP_016877585.1:p.Thr520Ile
XM_017022097.1:c.1550C>T	XP_016877586.1:p.Thr517Ile
XM_017022098.1:c.1355C>T	XP_016877587.1:p.Thr452Ile
NM_002112.4:c.1682C>T MANE Select	NP_002103.2:p.Thr561Ile
NM_001306146.2:c.1583C>T	NP_001293075.1:p.Thr528Ile