Canonical Allele Identifier: CA603839751

Gene: PYROXD1

Linked Data

• dbSNP Id: rs1222245159
• gnomAD v2: 12-21602453-G-A
• gnomAD v4: 12-21449519-G-A
• MyVariant Identifiers: chr12:g.21602453G>A (hg19) ; chr12:g.21449519G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449519G>A , CM000674.2:g.21449519G>A	GRCh38
NC_000012.11:g.21602453G>A , CM000674.1:g.21602453G>A	GRCh37
NC_000012.10:g.21493720G>A	NCBI36
NG_053196.1:g.16916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.286-44G>A MANE Select	ENSP00000240651.9:n.286-44G>A
ENST00000240651.13:c.286-44G>A	ENSP00000240651.9:n.286-44G>A
ENST00000375266.8:c.*212-44G>A	ENSP00000364415.4:n.*212-44G>A
ENST00000538582.5:c.73-44G>A	ENSP00000438505.1:n.73-44G>A
ENST00000543476.5:c.286-44G>A	ENSP00000440192.1:n.286-44G>A
ENST00000544970.5:c.286-44G>A	ENSP00000439106.1:n.286-44G>A
NM_024854.3:c.286-44G>A	NP_079130.2:n.286-44G>A
XM_006719153.2:c.286-44G>A	XP_006719216.1:n.286-44G>A
XR_242902.3:n.413-44G>A
NM_001350912.1:c.73-44G>A	NP_001337841.1:n.73-44G>A
NM_001350913.1:c.-418-44G>A	NP_001337842.1:n.-418-44G>A
NM_024854.4:c.286-44G>A	NP_079130.2:n.286-44G>A
XM_006719153.3:c.286-44G>A	XP_006719216.1:n.286-44G>A
XR_242902.4:n.387-44G>A
NM_024854.5:c.286-44G>A MANE Select	NP_079130.2:n.286-44G>A
NM_001350913.2:c.-418-44G>A	NP_001337842.1:n.-418-44G>A
NM_001350912.2:c.73-44G>A	NP_001337841.1:n.73-44G>A