Canonical Allele Identifier: CA2021109649
Gene: PYROXD1 HGNC NCBI

Linked Data

dbSNP Id: rs1942456720

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21449693dup , CM000674.2:g.21449693dup GRCh38
NC_000012.11:g.21602627dup , CM000674.1:g.21602627dup GRCh37
NC_000012.10:g.21493894dup NCBI36
NG_053196.1:g.17090dup

Transcript Alleles

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