Canonical Allele Identifier: CA478956759
Gene: PYROXD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.21602550T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21449616T>C , CM000674.2:g.21449616T>C GRCh38
NC_000012.11:g.21602550T>C , CM000674.1:g.21602550T>C GRCh37
NC_000012.10:g.21493817T>C NCBI36
NG_053196.1:g.17013T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000240651.14:c.339T>C MANE Select ENSP00000240651.9:p.Cys113=
ENST00000240651.13:c.339T>C ENSP00000240651.9:p.Cys113=
ENST00000375266.8:c.*265T>C ENSP00000364415.4:n.*265T>C
ENST00000538582.5:c.126T>C ENSP00000438505.1:p.Cys42=
ENST00000543476.5:c.339T>C ENSP00000440192.1:p.Cys113=
ENST00000544970.5:c.339T>C ENSP00000439106.1:p.Cys113=
NM_024854.3:c.339T>C NP_079130.2:p.Cys113=
XM_006719153.2:c.339T>C XP_006719216.1:p.Cys113=
XR_242902.3:n.466T>C
NM_001350912.1:c.126T>C NP_001337841.1:p.Cys42=
NM_001350913.1:c.-365T>C NP_001337842.1:n.-365T>C
NM_024854.4:c.339T>C NP_079130.2:p.Cys113=
XM_006719153.3:c.339T>C XP_006719216.1:p.Cys113=
XR_242902.4:n.440T>C
NM_024854.5:c.339T>C MANE Select NP_079130.2:p.Cys113=
NM_001350913.2:c.-365T>C NP_001337842.1:n.-365T>C
NM_001350912.2:c.126T>C NP_001337841.1:p.Cys42=