Canonical Allele Identifier: CA392377071

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534658C>A (hg19) ; chr15:g.50242461C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242461C>A , CM000677.2:g.50242461C>A	GRCh38
NC_000015.9:g.50534658C>A , CM000677.1:g.50534658C>A	GRCh37
NC_000015.8:g.48321950C>A	NCBI36
NG_027487.1:g.28505G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1788G>T MANE Select	ENSP00000267845.3:p.Lys596Asn
ENST00000267845.7:c.1788G>T	ENSP00000267845.3:p.Lys596Asn
ENST00000543581.5:c.1689G>T	ENSP00000440252.1:p.Lys563Asn
ENST00000559816.1:n.1532G>T
NM_001306146.1:c.1689G>T	NP_001293075.1:p.Lys563Asn
NM_002112.3:c.1788G>T	NP_002103.2:p.Lys596Asn
XM_011521479.1:c.1551G>T	XP_011519781.1:p.Lys517Asn
XM_011521480.1:c.1356G>T	XP_011519782.1:p.Lys452Asn
XM_017022094.1:c.1893G>T	XP_016877583.1:p.Lys631Asn
XM_017022095.1:c.1794G>T	XP_016877584.1:p.Lys598Asn
XM_017022096.1:c.1665G>T	XP_016877585.1:p.Lys555Asn
XM_017022097.1:c.1656G>T	XP_016877586.1:p.Lys552Asn
XM_017022098.1:c.1461G>T	XP_016877587.1:p.Lys487Asn
NM_002112.4:c.1788G>T MANE Select	NP_002103.2:p.Lys596Asn
NM_001306146.2:c.1689G>T	NP_001293075.1:p.Lys563Asn