Canonical Allele Identifier: CA270413792

Gene: HDC

Linked Data

• dbSNP Id: rs1029145791
• MyVariant Identifiers: chr15:g.50534568C>G (hg19) ; chr15:g.50242371C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242371C>G , CM000677.2:g.50242371C>G	GRCh38
NC_000015.9:g.50534568C>G , CM000677.1:g.50534568C>G	GRCh37
NC_000015.8:g.48321860C>G	NCBI36
NG_027487.1:g.28595G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1878G>C MANE Select	ENSP00000267845.3:p.Lys626Asn
ENST00000267845.7:c.1878G>C	ENSP00000267845.3:p.Lys626Asn
ENST00000543581.5:c.1779G>C	ENSP00000440252.1:p.Lys593Asn
ENST00000559816.1:n.1622G>C
NM_001306146.1:c.1779G>C	NP_001293075.1:p.Lys593Asn
NM_002112.3:c.1878G>C	NP_002103.2:p.Lys626Asn
XM_011521479.1:c.1641G>C	XP_011519781.1:p.Lys547Asn
XM_011521480.1:c.1446G>C	XP_011519782.1:p.Lys482Asn
XM_017022094.1:c.1983G>C	XP_016877583.1:p.Lys661Asn
XM_017022095.1:c.1884G>C	XP_016877584.1:p.Lys628Asn
XM_017022096.1:c.1755G>C	XP_016877585.1:p.Lys585Asn
XM_017022097.1:c.1746G>C	XP_016877586.1:p.Lys582Asn
XM_017022098.1:c.1551G>C	XP_016877587.1:p.Lys517Asn
NM_002112.4:c.1878G>C MANE Select	NP_002103.2:p.Lys626Asn
NM_001306146.2:c.1779G>C	NP_001293075.1:p.Lys593Asn