Canonical Allele Identifier: CA7554489

Gene: HDC

Linked Data

• dbSNP Id: rs772656918
• ExAC: 15:50534647 G / A
• gnomAD v2: 15-50534647-G-A
• gnomAD v3: 15-50242450-G-A
• gnomAD v4: 15-50242450-G-A
• MyVariant Identifiers: chr15:g.50534647G>A (hg19) ; chr15:g.50242450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242450G>A , CM000677.2:g.50242450G>A	GRCh38
NC_000015.9:g.50534647G>A , CM000677.1:g.50534647G>A	GRCh37
NC_000015.8:g.48321939G>A	NCBI36
NG_027487.1:g.28516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1799C>T MANE Select	ENSP00000267845.3:p.Thr600Ile
ENST00000267845.7:c.1799C>T	ENSP00000267845.3:p.Thr600Ile
ENST00000543581.5:c.1700C>T	ENSP00000440252.1:p.Thr567Ile
ENST00000559816.1:n.1543C>T
NM_001306146.1:c.1700C>T	NP_001293075.1:p.Thr567Ile
NM_002112.3:c.1799C>T	NP_002103.2:p.Thr600Ile
XM_011521479.1:c.1562C>T	XP_011519781.1:p.Thr521Ile
XM_011521480.1:c.1367C>T	XP_011519782.1:p.Thr456Ile
XM_017022094.1:c.1904C>T	XP_016877583.1:p.Thr635Ile
XM_017022095.1:c.1805C>T	XP_016877584.1:p.Thr602Ile
XM_017022096.1:c.1676C>T	XP_016877585.1:p.Thr559Ile
XM_017022097.1:c.1667C>T	XP_016877586.1:p.Thr556Ile
XM_017022098.1:c.1472C>T	XP_016877587.1:p.Thr491Ile
NM_002112.4:c.1799C>T MANE Select	NP_002103.2:p.Thr600Ile
NM_001306146.2:c.1700C>T	NP_001293075.1:p.Thr567Ile