Canonical Allele Identifier: CA392376954

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534601A>C (hg19) ; chr15:g.50242404A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242404A>C , CM000677.2:g.50242404A>C	GRCh38
NC_000015.9:g.50534601A>C , CM000677.1:g.50534601A>C	GRCh37
NC_000015.8:g.48321893A>C	NCBI36
NG_027487.1:g.28562T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1845T>G MANE Select	ENSP00000267845.3:p.Phe615Leu
ENST00000267845.7:c.1845T>G	ENSP00000267845.3:p.Phe615Leu
ENST00000543581.5:c.1746T>G	ENSP00000440252.1:p.Phe582Leu
ENST00000559816.1:n.1589T>G
NM_001306146.1:c.1746T>G	NP_001293075.1:p.Phe582Leu
NM_002112.3:c.1845T>G	NP_002103.2:p.Phe615Leu
XM_011521479.1:c.1608T>G	XP_011519781.1:p.Phe536Leu
XM_011521480.1:c.1413T>G	XP_011519782.1:p.Phe471Leu
XM_017022094.1:c.1950T>G	XP_016877583.1:p.Phe650Leu
XM_017022095.1:c.1851T>G	XP_016877584.1:p.Phe617Leu
XM_017022096.1:c.1722T>G	XP_016877585.1:p.Phe574Leu
XM_017022097.1:c.1713T>G	XP_016877586.1:p.Phe571Leu
XM_017022098.1:c.1518T>G	XP_016877587.1:p.Phe506Leu
NM_002112.4:c.1845T>G MANE Select	NP_002103.2:p.Phe615Leu
NM_001306146.2:c.1746T>G	NP_001293075.1:p.Phe582Leu