Canonical Allele Identifier: CA392376768

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534521A>G (hg19) ; chr15:g.50242324A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242324A>G , CM000677.2:g.50242324A>G	GRCh38
NC_000015.9:g.50534521A>G , CM000677.1:g.50534521A>G	GRCh37
NC_000015.8:g.48321813A>G	NCBI36
NG_027487.1:g.28642T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267845.8:c.1925T>C MANE Select	ENSP00000267845.3:p.Phe642Ser
ENST00000267845.7:c.1925T>C	ENSP00000267845.3:p.Phe642Ser
ENST00000543581.5:c.1826T>C	ENSP00000440252.1:p.Phe609Ser
ENST00000559816.1:n.1669T>C
NM_001306146.1:c.1826T>C	NP_001293075.1:p.Phe609Ser
NM_002112.3:c.1925T>C	NP_002103.2:p.Phe642Ser
XM_011521479.1:c.1688T>C	XP_011519781.1:p.Phe563Ser
XM_011521480.1:c.1493T>C	XP_011519782.1:p.Phe498Ser
XM_017022094.1:c.2030T>C	XP_016877583.1:p.Phe677Ser
XM_017022095.1:c.1931T>C	XP_016877584.1:p.Phe644Ser
XM_017022096.1:c.1802T>C	XP_016877585.1:p.Phe601Ser
XM_017022097.1:c.1793T>C	XP_016877586.1:p.Phe598Ser
XM_017022098.1:c.1598T>C	XP_016877587.1:p.Phe533Ser
NM_002112.4:c.1925T>C MANE Select	NP_002103.2:p.Phe642Ser
NM_001306146.2:c.1826T>C	NP_001293075.1:p.Phe609Ser