Canonical Allele Identifier: CA392377069

Gene: HDC

Linked Data

• dbSNP Id: rs2045408611
• MyVariant Identifiers: chr15:g.50534657G>C (hg19) ; chr15:g.50242460G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242460G>C , CM000677.2:g.50242460G>C	GRCh38
NC_000015.9:g.50534657G>C , CM000677.1:g.50534657G>C	GRCh37
NC_000015.8:g.48321949G>C	NCBI36
NG_027487.1:g.28506C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1789C>G MANE Select	ENSP00000267845.3:p.Pro597Ala
ENST00000267845.7:c.1789C>G	ENSP00000267845.3:p.Pro597Ala
ENST00000543581.5:c.1690C>G	ENSP00000440252.1:p.Pro564Ala
ENST00000559816.1:n.1533C>G
NM_001306146.1:c.1690C>G	NP_001293075.1:p.Pro564Ala
NM_002112.3:c.1789C>G	NP_002103.2:p.Pro597Ala
XM_011521479.1:c.1552C>G	XP_011519781.1:p.Pro518Ala
XM_011521480.1:c.1357C>G	XP_011519782.1:p.Pro453Ala
XM_017022094.1:c.1894C>G	XP_016877583.1:p.Pro632Ala
XM_017022095.1:c.1795C>G	XP_016877584.1:p.Pro599Ala
XM_017022096.1:c.1666C>G	XP_016877585.1:p.Pro556Ala
XM_017022097.1:c.1657C>G	XP_016877586.1:p.Pro553Ala
XM_017022098.1:c.1462C>G	XP_016877587.1:p.Pro488Ala
NM_002112.4:c.1789C>G MANE Select	NP_002103.2:p.Pro597Ala
NM_001306146.2:c.1690C>G	NP_001293075.1:p.Pro564Ala