Canonical Allele Identifier: CA7554463

Gene: HDC

Linked Data

• dbSNP Id: rs372779026
• ExAC: 15:50534490 C / G
• gnomAD v2: 15-50534490-C-G
• gnomAD v3: 15-50242293-C-G
• gnomAD v4: 15-50242293-C-G
• MyVariant Identifiers: chr15:g.50534490C>G (hg19) ; chr15:g.50242293C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242293C>G , CM000677.2:g.50242293C>G	GRCh38
NC_000015.9:g.50534490C>G , CM000677.1:g.50534490C>G	GRCh37
NC_000015.8:g.48321782C>G	NCBI36
NG_027487.1:g.28673G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1956G>C MANE Select	ENSP00000267845.3:p.Gln652His
ENST00000267845.7:c.1956G>C	ENSP00000267845.3:p.Gln652His
ENST00000543581.5:c.1857G>C	ENSP00000440252.1:p.Gln619His
ENST00000559816.1:n.1700G>C
NM_001306146.1:c.1857G>C	NP_001293075.1:p.Gln619His
NM_002112.3:c.1956G>C	NP_002103.2:p.Gln652His
XM_011521479.1:c.1719G>C	XP_011519781.1:p.Gln573His
XM_011521480.1:c.1524G>C	XP_011519782.1:p.Gln508His
XM_017022094.1:c.2061G>C	XP_016877583.1:p.Gln687His
XM_017022095.1:c.1962G>C	XP_016877584.1:p.Gln654His
XM_017022096.1:c.1833G>C	XP_016877585.1:p.Gln611His
XM_017022097.1:c.1824G>C	XP_016877586.1:p.Gln608His
XM_017022098.1:c.1629G>C	XP_016877587.1:p.Gln543His
NM_002112.4:c.1956G>C MANE Select	NP_002103.2:p.Gln652His
NM_001306146.2:c.1857G>C	NP_001293075.1:p.Gln619His