Canonical Allele Identifier: CA7554476

Gene: HDC

Linked Data

• dbSNP Id: rs760372380
• ExAC: 15:50534546 T / A
• gnomAD v2: 15-50534546-T-A
• gnomAD v3: 15-50242349-T-A
• gnomAD v4: 15-50242349-T-A
• MyVariant Identifiers: chr15:g.50534546T>A (hg19) ; chr15:g.50242349T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242349T>A , CM000677.2:g.50242349T>A	GRCh38
NC_000015.9:g.50534546T>A , CM000677.1:g.50534546T>A	GRCh37
NC_000015.8:g.48321838T>A	NCBI36
NG_027487.1:g.28617A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1900A>T MANE Select	ENSP00000267845.3:p.Ile634Phe
ENST00000267845.7:c.1900A>T	ENSP00000267845.3:p.Ile634Phe
ENST00000543581.5:c.1801A>T	ENSP00000440252.1:p.Ile601Phe
ENST00000559816.1:n.1644A>T
NM_001306146.1:c.1801A>T	NP_001293075.1:p.Ile601Phe
NM_002112.3:c.1900A>T	NP_002103.2:p.Ile634Phe
XM_011521479.1:c.1663A>T	XP_011519781.1:p.Ile555Phe
XM_011521480.1:c.1468A>T	XP_011519782.1:p.Ile490Phe
XM_017022094.1:c.2005A>T	XP_016877583.1:p.Ile669Phe
XM_017022095.1:c.1906A>T	XP_016877584.1:p.Ile636Phe
XM_017022096.1:c.1777A>T	XP_016877585.1:p.Ile593Phe
XM_017022097.1:c.1768A>T	XP_016877586.1:p.Ile590Phe
XM_017022098.1:c.1573A>T	XP_016877587.1:p.Ile525Phe
NM_002112.4:c.1900A>T MANE Select	NP_002103.2:p.Ile634Phe
NM_001306146.2:c.1801A>T	NP_001293075.1:p.Ile601Phe