Canonical Allele Identifier: CA392376908

Gene: HDC

Linked Data

• gnomAD v4: 15-50242383-C-T
• MyVariant Identifiers: chr15:g.50534580C>T (hg19) ; chr15:g.50242383C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242383C>T , CM000677.2:g.50242383C>T	GRCh38
NC_000015.9:g.50534580C>T , CM000677.1:g.50534580C>T	GRCh37
NC_000015.8:g.48321872C>T	NCBI36
NG_027487.1:g.28583G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1866G>A MANE Select	ENSP00000267845.3:p.Met622Ile
ENST00000267845.7:c.1866G>A	ENSP00000267845.3:p.Met622Ile
ENST00000543581.5:c.1767G>A	ENSP00000440252.1:p.Met589Ile
ENST00000559816.1:n.1610G>A
NM_001306146.1:c.1767G>A	NP_001293075.1:p.Met589Ile
NM_002112.3:c.1866G>A	NP_002103.2:p.Met622Ile
XM_011521479.1:c.1629G>A	XP_011519781.1:p.Met543Ile
XM_011521480.1:c.1434G>A	XP_011519782.1:p.Met478Ile
XM_017022094.1:c.1971G>A	XP_016877583.1:p.Met657Ile
XM_017022095.1:c.1872G>A	XP_016877584.1:p.Met624Ile
XM_017022096.1:c.1743G>A	XP_016877585.1:p.Met581Ile
XM_017022097.1:c.1734G>A	XP_016877586.1:p.Met578Ile
XM_017022098.1:c.1539G>A	XP_016877587.1:p.Met513Ile
NM_002112.4:c.1866G>A MANE Select	NP_002103.2:p.Met622Ile
NM_001306146.2:c.1767G>A	NP_001293075.1:p.Met589Ile