Canonical Allele Identifier: CA392377017

Gene: HDC

Linked Data

• COSMIC: COSM1562904
• MyVariant Identifiers: chr15:g.50534631C>G (hg19) ; chr15:g.50242434C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242434C>G , CM000677.2:g.50242434C>G	GRCh38
NC_000015.9:g.50534631C>G , CM000677.1:g.50534631C>G	GRCh37
NC_000015.8:g.48321923C>G	NCBI36
NG_027487.1:g.28532G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1815G>C MANE Select	ENSP00000267845.3:p.Lys605Asn
ENST00000267845.7:c.1815G>C	ENSP00000267845.3:p.Lys605Asn
ENST00000543581.5:c.1716G>C	ENSP00000440252.1:p.Lys572Asn
ENST00000559816.1:n.1559G>C
NM_001306146.1:c.1716G>C	NP_001293075.1:p.Lys572Asn
NM_002112.3:c.1815G>C	NP_002103.2:p.Lys605Asn
XM_011521479.1:c.1578G>C	XP_011519781.1:p.Lys526Asn
XM_011521480.1:c.1383G>C	XP_011519782.1:p.Lys461Asn
XM_017022094.1:c.1920G>C	XP_016877583.1:p.Lys640Asn
XM_017022095.1:c.1821G>C	XP_016877584.1:p.Lys607Asn
XM_017022096.1:c.1692G>C	XP_016877585.1:p.Lys564Asn
XM_017022097.1:c.1683G>C	XP_016877586.1:p.Lys561Asn
XM_017022098.1:c.1488G>C	XP_016877587.1:p.Lys496Asn
NM_002112.4:c.1815G>C MANE Select	NP_002103.2:p.Lys605Asn
NM_001306146.2:c.1716G>C	NP_001293075.1:p.Lys572Asn