Canonical Allele Identifier: CA384301873

Gene: PYROXD1

Linked Data

• gnomAD v4: 12-21449609-G-A
• MyVariant Identifiers: chr12:g.21602543G>A (hg19) ; chr12:g.21449609G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449609G>A , CM000674.2:g.21449609G>A	GRCh38
NC_000012.11:g.21602543G>A , CM000674.1:g.21602543G>A	GRCh37
NC_000012.10:g.21493810G>A	NCBI36
NG_053196.1:g.17006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.332G>A MANE Select	ENSP00000240651.9:p.Cys111Tyr
ENST00000240651.13:c.332G>A	ENSP00000240651.9:p.Cys111Tyr
ENST00000375266.8:c.*258G>A	ENSP00000364415.4:n.*258G>A
ENST00000538582.5:c.119G>A	ENSP00000438505.1:p.Cys40Tyr
ENST00000543476.5:c.332G>A	ENSP00000440192.1:p.Cys111Tyr
ENST00000544970.5:c.332G>A	ENSP00000439106.1:p.Cys111Tyr
NM_024854.3:c.332G>A	NP_079130.2:p.Cys111Tyr
XM_006719153.2:c.332G>A	XP_006719216.1:p.Cys111Tyr
XR_242902.3:n.459G>A
NM_001350912.1:c.119G>A	NP_001337841.1:p.Cys40Tyr
NM_001350913.1:c.-372G>A	NP_001337842.1:n.-372G>A
NM_024854.4:c.332G>A	NP_079130.2:p.Cys111Tyr
XM_006719153.3:c.332G>A	XP_006719216.1:p.Cys111Tyr
XR_242902.4:n.433G>A
NM_024854.5:c.332G>A MANE Select	NP_079130.2:p.Cys111Tyr
NM_001350913.2:c.-372G>A	NP_001337842.1:n.-372G>A
NM_001350912.2:c.119G>A	NP_001337841.1:p.Cys40Tyr