Canonical Allele Identifier: CA392376779

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534525T>C (hg19) ; chr15:g.50242328T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242328T>C , CM000677.2:g.50242328T>C	GRCh38
NC_000015.9:g.50534525T>C , CM000677.1:g.50534525T>C	GRCh37
NC_000015.8:g.48321817T>C	NCBI36
NG_027487.1:g.28638A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267845.8:c.1921A>G MANE Select	ENSP00000267845.3:p.Ser641Gly
ENST00000267845.7:c.1921A>G	ENSP00000267845.3:p.Ser641Gly
ENST00000543581.5:c.1822A>G	ENSP00000440252.1:p.Ser608Gly
ENST00000559816.1:n.1665A>G
NM_001306146.1:c.1822A>G	NP_001293075.1:p.Ser608Gly
NM_002112.3:c.1921A>G	NP_002103.2:p.Ser641Gly
XM_011521479.1:c.1684A>G	XP_011519781.1:p.Ser562Gly
XM_011521480.1:c.1489A>G	XP_011519782.1:p.Ser497Gly
XM_017022094.1:c.2026A>G	XP_016877583.1:p.Ser676Gly
XM_017022095.1:c.1927A>G	XP_016877584.1:p.Ser643Gly
XM_017022096.1:c.1798A>G	XP_016877585.1:p.Ser600Gly
XM_017022097.1:c.1789A>G	XP_016877586.1:p.Ser597Gly
XM_017022098.1:c.1594A>G	XP_016877587.1:p.Ser532Gly
NM_002112.4:c.1921A>G MANE Select	NP_002103.2:p.Ser641Gly
NM_001306146.2:c.1822A>G	NP_001293075.1:p.Ser608Gly