Canonical Allele Identifier: CA392377065

Gene: HDC

Linked Data

• gnomAD v4: 15-50242459-G-A
• MyVariant Identifiers: chr15:g.50534656G>A (hg19) ; chr15:g.50242459G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242459G>A , CM000677.2:g.50242459G>A	GRCh38
NC_000015.9:g.50534656G>A , CM000677.1:g.50534656G>A	GRCh37
NC_000015.8:g.48321948G>A	NCBI36
NG_027487.1:g.28507C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1790C>T MANE Select	ENSP00000267845.3:p.Pro597Leu
ENST00000267845.7:c.1790C>T	ENSP00000267845.3:p.Pro597Leu
ENST00000543581.5:c.1691C>T	ENSP00000440252.1:p.Pro564Leu
ENST00000559816.1:n.1534C>T
NM_001306146.1:c.1691C>T	NP_001293075.1:p.Pro564Leu
NM_002112.3:c.1790C>T	NP_002103.2:p.Pro597Leu
XM_011521479.1:c.1553C>T	XP_011519781.1:p.Pro518Leu
XM_011521480.1:c.1358C>T	XP_011519782.1:p.Pro453Leu
XM_017022094.1:c.1895C>T	XP_016877583.1:p.Pro632Leu
XM_017022095.1:c.1796C>T	XP_016877584.1:p.Pro599Leu
XM_017022096.1:c.1667C>T	XP_016877585.1:p.Pro556Leu
XM_017022097.1:c.1658C>T	XP_016877586.1:p.Pro553Leu
XM_017022098.1:c.1463C>T	XP_016877587.1:p.Pro488Leu
NM_002112.4:c.1790C>T MANE Select	NP_002103.2:p.Pro597Leu
NM_001306146.2:c.1691C>T	NP_001293075.1:p.Pro564Leu