Canonical Allele Identifier: CA392377073

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534659T>A (hg19) ; chr15:g.50242462T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242462T>A , CM000677.2:g.50242462T>A	GRCh38
NC_000015.9:g.50534659T>A , CM000677.1:g.50534659T>A	GRCh37
NC_000015.8:g.48321951T>A	NCBI36
NG_027487.1:g.28504A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1787A>T MANE Select	ENSP00000267845.3:p.Lys596Met
ENST00000267845.7:c.1787A>T	ENSP00000267845.3:p.Lys596Met
ENST00000543581.5:c.1688A>T	ENSP00000440252.1:p.Lys563Met
ENST00000559816.1:n.1531A>T
NM_001306146.1:c.1688A>T	NP_001293075.1:p.Lys563Met
NM_002112.3:c.1787A>T	NP_002103.2:p.Lys596Met
XM_011521479.1:c.1550A>T	XP_011519781.1:p.Lys517Met
XM_011521480.1:c.1355A>T	XP_011519782.1:p.Lys452Met
XM_017022094.1:c.1892A>T	XP_016877583.1:p.Lys631Met
XM_017022095.1:c.1793A>T	XP_016877584.1:p.Lys598Met
XM_017022096.1:c.1664A>T	XP_016877585.1:p.Lys555Met
XM_017022097.1:c.1655A>T	XP_016877586.1:p.Lys552Met
XM_017022098.1:c.1460A>T	XP_016877587.1:p.Lys487Met
NM_002112.4:c.1787A>T MANE Select	NP_002103.2:p.Lys596Met
NM_001306146.2:c.1688A>T	NP_001293075.1:p.Lys563Met