Canonical Allele Identifier: CA384301876

Gene: PYROXD1

Linked Data

• MyVariant Identifiers: chr12:g.21602545C>A (hg19) ; chr12:g.21449611C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449611C>A , CM000674.2:g.21449611C>A	GRCh38
NC_000012.11:g.21602545C>A , CM000674.1:g.21602545C>A	GRCh37
NC_000012.10:g.21493812C>A	NCBI36
NG_053196.1:g.17008C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.334C>A MANE Select	ENSP00000240651.9:p.Leu112Met
ENST00000240651.13:c.334C>A	ENSP00000240651.9:p.Leu112Met
ENST00000375266.8:c.*260C>A	ENSP00000364415.4:n.*260C>A
ENST00000538582.5:c.121C>A	ENSP00000438505.1:p.Leu41Met
ENST00000543476.5:c.334C>A	ENSP00000440192.1:p.Leu112Met
ENST00000544970.5:c.334C>A	ENSP00000439106.1:p.Leu112Met
NM_024854.3:c.334C>A	NP_079130.2:p.Leu112Met
XM_006719153.2:c.334C>A	XP_006719216.1:p.Leu112Met
XR_242902.3:n.461C>A
NM_001350912.1:c.121C>A	NP_001337841.1:p.Leu41Met
NM_001350913.1:c.-370C>A	NP_001337842.1:n.-370C>A
NM_024854.4:c.334C>A	NP_079130.2:p.Leu112Met
XM_006719153.3:c.334C>A	XP_006719216.1:p.Leu112Met
XR_242902.4:n.435C>A
NM_024854.5:c.334C>A MANE Select	NP_079130.2:p.Leu112Met
NM_001350913.2:c.-370C>A	NP_001337842.1:n.-370C>A
NM_001350912.2:c.121C>A	NP_001337841.1:p.Leu41Met