Canonical Allele Identifier: CA7554497

Gene: HDC

Linked Data

• dbSNP Id: rs35670478
• ExAC: 15:50534676 C / T
• gnomAD v2: 15-50534676-C-T
• gnomAD v3: 15-50242479-C-T
• gnomAD v4: 15-50242479-C-T
• MyVariant Identifiers: chr15:g.50534676C>T (hg19) ; chr15:g.50242479C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242479C>T , CM000677.2:g.50242479C>T	GRCh38
NC_000015.9:g.50534676C>T , CM000677.1:g.50534676C>T	GRCh37
NC_000015.8:g.48321968C>T	NCBI36
NG_027487.1:g.28487G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1770G>A MANE Select	ENSP00000267845.3:p.Val590=
ENST00000267845.7:c.1770G>A	ENSP00000267845.3:p.Val590=
ENST00000543581.5:c.1671G>A	ENSP00000440252.1:p.Val557=
ENST00000559816.1:n.1514G>A
NM_001306146.1:c.1671G>A	NP_001293075.1:p.Val557=
NM_002112.3:c.1770G>A	NP_002103.2:p.Val590=
XM_011521479.1:c.1533G>A	XP_011519781.1:p.Val511=
XM_011521480.1:c.1338G>A	XP_011519782.1:p.Val446=
XM_017022094.1:c.1875G>A	XP_016877583.1:p.Val625=
XM_017022095.1:c.1776G>A	XP_016877584.1:p.Val592=
XM_017022096.1:c.1647G>A	XP_016877585.1:p.Val549=
XM_017022097.1:c.1638G>A	XP_016877586.1:p.Val546=
XM_017022098.1:c.1443G>A	XP_016877587.1:p.Val481=
NM_002112.4:c.1770G>A MANE Select	NP_002103.2:p.Val590=
NM_001306146.2:c.1671G>A	NP_001293075.1:p.Val557=