Canonical Allele Identifier: CA384301888

Gene: PYROXD1

Linked Data

• MyVariant Identifiers: chr12:g.21602550T>G (hg19) ; chr12:g.21449616T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.339T>G MANE Select	ENSP00000240651.9:p.Cys113Trp
ENST00000240651.13:c.339T>G	ENSP00000240651.9:p.Cys113Trp
ENST00000375266.8:c.*265T>G	ENSP00000364415.4:n.*265T>G
ENST00000538582.5:c.126T>G	ENSP00000438505.1:p.Cys42Trp
ENST00000543476.5:c.339T>G	ENSP00000440192.1:p.Cys113Trp
ENST00000544970.5:c.339T>G	ENSP00000439106.1:p.Cys113Trp
NM_024854.3:c.339T>G	NP_079130.2:p.Cys113Trp
XM_006719153.2:c.339T>G	XP_006719216.1:p.Cys113Trp
XR_242902.3:n.466T>G
NM_001350912.1:c.126T>G	NP_001337841.1:p.Cys42Trp
NM_001350913.1:c.-365T>G	NP_001337842.1:n.-365T>G
NM_024854.4:c.339T>G	NP_079130.2:p.Cys113Trp
XM_006719153.3:c.339T>G	XP_006719216.1:p.Cys113Trp
XR_242902.4:n.440T>G
NM_024854.5:c.339T>G MANE Select	NP_079130.2:p.Cys113Trp
NM_001350913.2:c.-365T>G	NP_001337842.1:n.-365T>G
NM_001350912.2:c.126T>G	NP_001337841.1:p.Cys42Trp