Canonical Allele Identifier: CA7554519

Gene: HDC

Linked Data

• dbSNP Id: rs775075139
• ExAC: 15:50534771 C / A
• gnomAD v2: 15-50534771-C-A
• gnomAD v3: 15-50242574-C-A
• gnomAD v4: 15-50242574-C-A
• MyVariant Identifiers: chr15:g.50534771C>A (hg19) ; chr15:g.50242574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242574C>A , CM000677.2:g.50242574C>A	GRCh38
NC_000015.9:g.50534771C>A , CM000677.1:g.50534771C>A	GRCh37
NC_000015.8:g.48322063C>A	NCBI36
NG_027487.1:g.28392G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1675G>T MANE Select	ENSP00000267845.3:p.Asp559Tyr
ENST00000267845.7:c.1675G>T	ENSP00000267845.3:p.Asp559Tyr
ENST00000543581.5:c.1576G>T	ENSP00000440252.1:p.Asp526Tyr
ENST00000559816.1:n.1419G>T
NM_001306146.1:c.1576G>T	NP_001293075.1:p.Asp526Tyr
NM_002112.3:c.1675G>T	NP_002103.2:p.Asp559Tyr
XM_011521479.1:c.1438G>T	XP_011519781.1:p.Asp480Tyr
XM_011521480.1:c.1243G>T	XP_011519782.1:p.Asp415Tyr
XM_017022094.1:c.1780G>T	XP_016877583.1:p.Asp594Tyr
XM_017022095.1:c.1681G>T	XP_016877584.1:p.Asp561Tyr
XM_017022096.1:c.1552G>T	XP_016877585.1:p.Asp518Tyr
XM_017022097.1:c.1543G>T	XP_016877586.1:p.Asp515Tyr
XM_017022098.1:c.1348G>T	XP_016877587.1:p.Asp450Tyr
NM_002112.4:c.1675G>T MANE Select	NP_002103.2:p.Asp559Tyr
NM_001306146.2:c.1576G>T	NP_001293075.1:p.Asp526Tyr