Canonical Allele Identifier: CA392377016

Gene: HDC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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