Canonical Allele Identifier: CA490314019

Gene: HDC

Linked Data

• gnomAD v4: 15-50242419-G-A
• MyVariant Identifiers: chr15:g.50534616G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242419G>A , CM000677.2:g.50242419G>A	GRCh38
NC_000015.9:g.50534616G>A , CM000677.1:g.50534616G>A	GRCh37
NC_000015.8:g.48321908G>A	NCBI36
NG_027487.1:g.28547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1830C>T MANE Select	ENSP00000267845.3:p.Ser610=
ENST00000267845.7:c.1830C>T	ENSP00000267845.3:p.Ser610=
ENST00000543581.5:c.1731C>T	ENSP00000440252.1:p.Ser577=
ENST00000559816.1:n.1574C>T
NM_001306146.1:c.1731C>T	NP_001293075.1:p.Ser577=
NM_002112.3:c.1830C>T	NP_002103.2:p.Ser610=
XM_011521479.1:c.1593C>T	XP_011519781.1:p.Ser531=
XM_011521480.1:c.1398C>T	XP_011519782.1:p.Ser466=
XM_017022094.1:c.1935C>T	XP_016877583.1:p.Ser645=
XM_017022095.1:c.1836C>T	XP_016877584.1:p.Ser612=
XM_017022096.1:c.1707C>T	XP_016877585.1:p.Ser569=
XM_017022097.1:c.1698C>T	XP_016877586.1:p.Ser566=
XM_017022098.1:c.1503C>T	XP_016877587.1:p.Ser501=
NM_002112.4:c.1830C>T MANE Select	NP_002103.2:p.Ser610=
NM_001306146.2:c.1731C>T	NP_001293075.1:p.Ser577=