Canonical Allele Identifier: CA270414018

Gene: HDC

Linked Data

• dbSNP Id: rs949285541
• MyVariant Identifiers: chr15:g.50534761T>G (hg19) ; chr15:g.50242564T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242564T>G , CM000677.2:g.50242564T>G	GRCh38
NC_000015.9:g.50534761T>G , CM000677.1:g.50534761T>G	GRCh37
NC_000015.8:g.48322053T>G	NCBI36
NG_027487.1:g.28402A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1685A>C MANE Select	ENSP00000267845.3:p.Lys562Thr
ENST00000267845.7:c.1685A>C	ENSP00000267845.3:p.Lys562Thr
ENST00000543581.5:c.1586A>C	ENSP00000440252.1:p.Lys529Thr
ENST00000559816.1:n.1429A>C
NM_001306146.1:c.1586A>C	NP_001293075.1:p.Lys529Thr
NM_002112.3:c.1685A>C	NP_002103.2:p.Lys562Thr
XM_011521479.1:c.1448A>C	XP_011519781.1:p.Lys483Thr
XM_011521480.1:c.1253A>C	XP_011519782.1:p.Lys418Thr
XM_017022094.1:c.1790A>C	XP_016877583.1:p.Lys597Thr
XM_017022095.1:c.1691A>C	XP_016877584.1:p.Lys564Thr
XM_017022096.1:c.1562A>C	XP_016877585.1:p.Lys521Thr
XM_017022097.1:c.1553A>C	XP_016877586.1:p.Lys518Thr
XM_017022098.1:c.1358A>C	XP_016877587.1:p.Lys453Thr
NM_002112.4:c.1685A>C MANE Select	NP_002103.2:p.Lys562Thr
NM_001306146.2:c.1586A>C	NP_001293075.1:p.Lys529Thr