Canonical Allele Identifier: CA7554485

Gene: HDC

Linked Data

• dbSNP Id: rs749512582
• ExAC: 15:50534609 T / C
• gnomAD v2: 15-50534609-T-C
• gnomAD v3: 15-50242412-T-C
• gnomAD v4: 15-50242412-T-C
• MyVariant Identifiers: chr15:g.50534609T>C (hg19) ; chr15:g.50242412T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242412T>C , CM000677.2:g.50242412T>C	GRCh38
NC_000015.9:g.50534609T>C , CM000677.1:g.50534609T>C	GRCh37
NC_000015.8:g.48321901T>C	NCBI36
NG_027487.1:g.28554A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1837A>G MANE Select	ENSP00000267845.3:p.Arg613Gly
ENST00000267845.7:c.1837A>G	ENSP00000267845.3:p.Arg613Gly
ENST00000543581.5:c.1738A>G	ENSP00000440252.1:p.Arg580Gly
ENST00000559816.1:n.1581A>G
NM_001306146.1:c.1738A>G	NP_001293075.1:p.Arg580Gly
NM_002112.3:c.1837A>G	NP_002103.2:p.Arg613Gly
XM_011521479.1:c.1600A>G	XP_011519781.1:p.Arg534Gly
XM_011521480.1:c.1405A>G	XP_011519782.1:p.Arg469Gly
XM_017022094.1:c.1942A>G	XP_016877583.1:p.Arg648Gly
XM_017022095.1:c.1843A>G	XP_016877584.1:p.Arg615Gly
XM_017022096.1:c.1714A>G	XP_016877585.1:p.Arg572Gly
XM_017022097.1:c.1705A>G	XP_016877586.1:p.Arg569Gly
XM_017022098.1:c.1510A>G	XP_016877587.1:p.Arg504Gly
NM_002112.4:c.1837A>G MANE Select	NP_002103.2:p.Arg613Gly
NM_001306146.2:c.1738A>G	NP_001293075.1:p.Arg580Gly