Canonical Allele Identifier: CA7554496

Gene: HDC

Linked Data

• ClinVar Variation Id: 2262063
• ClinVar RCV Id: RCV004115888
• dbSNP Id: rs750174191
• ExAC: 15:50534675 G / A
• gnomAD v2: 15-50534675-G-A
• gnomAD v4: 15-50242478-G-A
• MyVariant Identifiers: chr15:g.50534675G>A (hg19) ; chr15:g.50242478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242478G>A , CM000677.2:g.50242478G>A	GRCh38
NC_000015.9:g.50534675G>A , CM000677.1:g.50534675G>A	GRCh37
NC_000015.8:g.48321967G>A	NCBI36
NG_027487.1:g.28488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1771C>T MANE Select	ENSP00000267845.3:p.Pro591Ser
ENST00000267845.7:c.1771C>T	ENSP00000267845.3:p.Pro591Ser
ENST00000543581.5:c.1672C>T	ENSP00000440252.1:p.Pro558Ser
ENST00000559816.1:n.1515C>T
NM_001306146.1:c.1672C>T	NP_001293075.1:p.Pro558Ser
NM_002112.3:c.1771C>T	NP_002103.2:p.Pro591Ser
XM_011521479.1:c.1534C>T	XP_011519781.1:p.Pro512Ser
XM_011521480.1:c.1339C>T	XP_011519782.1:p.Pro447Ser
XM_017022094.1:c.1876C>T	XP_016877583.1:p.Pro626Ser
XM_017022095.1:c.1777C>T	XP_016877584.1:p.Pro593Ser
XM_017022096.1:c.1648C>T	XP_016877585.1:p.Pro550Ser
XM_017022097.1:c.1639C>T	XP_016877586.1:p.Pro547Ser
XM_017022098.1:c.1444C>T	XP_016877587.1:p.Pro482Ser
NM_002112.4:c.1771C>T MANE Select	NP_002103.2:p.Pro591Ser
NM_001306146.2:c.1672C>T	NP_001293075.1:p.Pro558Ser