Canonical Allele Identifier: CA919039649
Gene: PYROXD1 HGNC NCBI

Linked Data

dbSNP Id: rs1565546975

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21449608dup , CM000674.2:g.21449608dup GRCh38
NC_000012.11:g.21602542dup , CM000674.1:g.21602542dup GRCh37
NC_000012.10:g.21493809dup NCBI36
NG_053196.1:g.17005dup

Transcript Alleles

HGVS Amino-acid change
ENST00000240651.14:c.331dup MANE Select ENSP00000240651.9:p.Cys111LeufsTer7
ENST00000240651.13:c.331dup ENSP00000240651.9:p.Cys111LeufsTer7
ENST00000375266.8:c.*257dup ENSP00000364415.4:n.*257dup
ENST00000538582.5:c.118dup ENSP00000438505.1:p.Cys40LeufsTer7
ENST00000543476.5:c.331dup ENSP00000440192.1:p.Cys111LeufsTer7
ENST00000544970.5:c.331dup ENSP00000439106.1:p.Cys111LeufsTer7
NM_024854.3:c.331dup NP_079130.2:p.Cys111LeufsTer7
XM_006719153.2:c.331dup XP_006719216.1:p.Cys111LeufsTer7
XR_242902.3:n.458dup
NM_001350912.1:c.118dup NP_001337841.1:p.Cys40LeufsTer7
NM_001350913.1:c.-373dup NP_001337842.1:n.-373dup
NM_024854.4:c.331dup NP_079130.2:p.Cys111LeufsTer7
XM_006719153.3:c.331dup XP_006719216.1:p.Cys111LeufsTer7
XR_242902.4:n.432dup
NM_024854.5:c.331dup MANE Select NP_079130.2:p.Cys111LeufsTer7
NM_001350913.2:c.-373dup NP_001337842.1:n.-373dup
NM_001350912.2:c.118dup NP_001337841.1:p.Cys40LeufsTer7