Canonical Allele Identifier: CA392376881

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534569T>G (hg19) ; chr15:g.50242372T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242372T>G , CM000677.2:g.50242372T>G	GRCh38
NC_000015.9:g.50534569T>G , CM000677.1:g.50534569T>G	GRCh37
NC_000015.8:g.48321861T>G	NCBI36
NG_027487.1:g.28594A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1877A>C MANE Select	ENSP00000267845.3:p.Lys626Thr
ENST00000267845.7:c.1877A>C	ENSP00000267845.3:p.Lys626Thr
ENST00000543581.5:c.1778A>C	ENSP00000440252.1:p.Lys593Thr
ENST00000559816.1:n.1621A>C
NM_001306146.1:c.1778A>C	NP_001293075.1:p.Lys593Thr
NM_002112.3:c.1877A>C	NP_002103.2:p.Lys626Thr
XM_011521479.1:c.1640A>C	XP_011519781.1:p.Lys547Thr
XM_011521480.1:c.1445A>C	XP_011519782.1:p.Lys482Thr
XM_017022094.1:c.1982A>C	XP_016877583.1:p.Lys661Thr
XM_017022095.1:c.1883A>C	XP_016877584.1:p.Lys628Thr
XM_017022096.1:c.1754A>C	XP_016877585.1:p.Lys585Thr
XM_017022097.1:c.1745A>C	XP_016877586.1:p.Lys582Thr
XM_017022098.1:c.1550A>C	XP_016877587.1:p.Lys517Thr
NM_002112.4:c.1877A>C MANE Select	NP_002103.2:p.Lys626Thr
NM_001306146.2:c.1778A>C	NP_001293075.1:p.Lys593Thr