Canonical Allele Identifier: CA7554498

Gene: HDC

Linked Data

• dbSNP Id: rs551690440
• ExAC: 15:50534681 T / C
• gnomAD v2: 15-50534681-T-C
• gnomAD v3: 15-50242484-T-C
• gnomAD v4: 15-50242484-T-C
• MyVariant Identifiers: chr15:g.50534681T>C (hg19) ; chr15:g.50242484T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242484T>C , CM000677.2:g.50242484T>C	GRCh38
NC_000015.9:g.50534681T>C , CM000677.1:g.50534681T>C	GRCh37
NC_000015.8:g.48321973T>C	NCBI36
NG_027487.1:g.28482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1765A>G MANE Select	ENSP00000267845.3:p.Ser589Gly
ENST00000267845.7:c.1765A>G	ENSP00000267845.3:p.Ser589Gly
ENST00000543581.5:c.1666A>G	ENSP00000440252.1:p.Ser556Gly
ENST00000559816.1:n.1509A>G
NM_001306146.1:c.1666A>G	NP_001293075.1:p.Ser556Gly
NM_002112.3:c.1765A>G	NP_002103.2:p.Ser589Gly
XM_011521479.1:c.1528A>G	XP_011519781.1:p.Ser510Gly
XM_011521480.1:c.1333A>G	XP_011519782.1:p.Ser445Gly
XM_017022094.1:c.1870A>G	XP_016877583.1:p.Ser624Gly
XM_017022095.1:c.1771A>G	XP_016877584.1:p.Ser591Gly
XM_017022096.1:c.1642A>G	XP_016877585.1:p.Ser548Gly
XM_017022097.1:c.1633A>G	XP_016877586.1:p.Ser545Gly
XM_017022098.1:c.1438A>G	XP_016877587.1:p.Ser480Gly
NM_002112.4:c.1765A>G MANE Select	NP_002103.2:p.Ser589Gly
NM_001306146.2:c.1666A>G	NP_001293075.1:p.Ser556Gly