Canonical Allele Identifier: CA16042281
Gene: PYROXD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372281
ClinVar RCV Id: RCV000412626
dbSNP Id: rs1057518754

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21449692G>A , CM000674.2:g.21449692G>A GRCh38
NC_000012.11:g.21602626G>A , CM000674.1:g.21602626G>A GRCh37
NC_000012.10:g.21493893G>A NCBI36
NG_053196.1:g.17089G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000240651.14:c.414+1G>A MANE Select ENSP00000240651.9:n.414+1G>A
ENST00000240651.13:c.414+1G>A ENSP00000240651.9:n.414+1G>A
ENST00000375266.8:c.*340+1G>A ENSP00000364415.4:n.*340+1G>A
ENST00000538582.5:c.201+1G>A ENSP00000438505.1:n.201+1G>A
ENST00000543476.5:c.414+1G>A ENSP00000440192.1:n.414+1G>A
ENST00000544970.5:c.414+1G>A ENSP00000439106.1:n.414+1G>A
NM_024854.3:c.414+1G>A NP_079130.2:n.414+1G>A
XM_006719153.2:c.414+1G>A XP_006719216.1:n.414+1G>A
XR_242902.3:n.541+1G>A
NM_001350912.1:c.201+1G>A NP_001337841.1:n.201+1G>A
NM_001350913.1:c.-290+1G>A NP_001337842.1:n.-290+1G>A
NM_024854.4:c.414+1G>A NP_079130.2:n.414+1G>A
XM_006719153.3:c.414+1G>A XP_006719216.1:n.414+1G>A
XR_242902.4:n.515+1G>A
NM_024854.5:c.414+1G>A MANE Select NP_079130.2:n.414+1G>A
NM_001350913.2:c.-290+1G>A NP_001337842.1:n.-290+1G>A
NM_001350912.2:c.201+1G>A NP_001337841.1:n.201+1G>A