Canonical Allele Identifier: CA392376393

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534463C>G (hg19) ; chr15:g.50242266C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242266C>G , CM000677.2:g.50242266C>G	GRCh38
NC_000015.9:g.50534463C>G , CM000677.1:g.50534463C>G	GRCh37
NC_000015.8:g.48321755C>G	NCBI36
NG_027487.1:g.28700G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1983G>C MANE Select	ENSP00000267845.3:p.Met661Ile
ENST00000267845.7:c.1983G>C	ENSP00000267845.3:p.Met661Ile
ENST00000543581.5:c.1884G>C	ENSP00000440252.1:p.Met628Ile
ENST00000559816.1:n.1727G>C
NM_001306146.1:c.1884G>C	NP_001293075.1:p.Met628Ile
NM_002112.3:c.1983G>C	NP_002103.2:p.Met661Ile
XM_011521479.1:c.1746G>C	XP_011519781.1:p.Met582Ile
XM_011521480.1:c.1551G>C	XP_011519782.1:p.Met517Ile
XM_017022094.1:c.2088G>C	XP_016877583.1:p.Met696Ile
XM_017022095.1:c.1989G>C	XP_016877584.1:p.Met663Ile
XM_017022096.1:c.1860G>C	XP_016877585.1:p.Met620Ile
XM_017022097.1:c.1851G>C	XP_016877586.1:p.Met617Ile
XM_017022098.1:c.1656G>C	XP_016877587.1:p.Met552Ile
NM_002112.4:c.1983G>C MANE Select	NP_002103.2:p.Met661Ile
NM_001306146.2:c.1884G>C	NP_001293075.1:p.Met628Ile