Canonical Allele Identifier: CA392377292

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534762T>A (hg19) ; chr15:g.50242565T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242565T>A , CM000677.2:g.50242565T>A	GRCh38
NC_000015.9:g.50534762T>A , CM000677.1:g.50534762T>A	GRCh37
NC_000015.8:g.48322054T>A	NCBI36
NG_027487.1:g.28401A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1684A>T MANE Select	ENSP00000267845.3:p.Lys562Ter
ENST00000267845.7:c.1684A>T	ENSP00000267845.3:p.Lys562Ter
ENST00000543581.5:c.1585A>T	ENSP00000440252.1:p.Lys529Ter
ENST00000559816.1:n.1428A>T
NM_001306146.1:c.1585A>T	NP_001293075.1:p.Lys529Ter
NM_002112.3:c.1684A>T	NP_002103.2:p.Lys562Ter
XM_011521479.1:c.1447A>T	XP_011519781.1:p.Lys483Ter
XM_011521480.1:c.1252A>T	XP_011519782.1:p.Lys418Ter
XM_017022094.1:c.1789A>T	XP_016877583.1:p.Lys597Ter
XM_017022095.1:c.1690A>T	XP_016877584.1:p.Lys564Ter
XM_017022096.1:c.1561A>T	XP_016877585.1:p.Lys521Ter
XM_017022097.1:c.1552A>T	XP_016877586.1:p.Lys518Ter
XM_017022098.1:c.1357A>T	XP_016877587.1:p.Lys453Ter
NM_002112.4:c.1684A>T MANE Select	NP_002103.2:p.Lys562Ter
NM_001306146.2:c.1585A>T	NP_001293075.1:p.Lys529Ter