Canonical Allele Identifier: CA6478161

Gene: PYROXD1

Linked Data

• dbSNP Id: rs767860891
• ExAC: 12:21602459 G / A
• gnomAD v2: 12-21602459-G-A
• gnomAD v4: 12-21449525-G-A
• MyVariant Identifiers: chr12:g.21602459G>A (hg19) ; chr12:g.21449525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449525G>A , CM000674.2:g.21449525G>A	GRCh38
NC_000012.11:g.21602459G>A , CM000674.1:g.21602459G>A	GRCh37
NC_000012.10:g.21493726G>A	NCBI36
NG_053196.1:g.16922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.286-38G>A MANE Select	ENSP00000240651.9:n.286-38G>A
ENST00000240651.13:c.286-38G>A	ENSP00000240651.9:n.286-38G>A
ENST00000375266.8:c.*212-38G>A	ENSP00000364415.4:n.*212-38G>A
ENST00000538582.5:c.73-38G>A	ENSP00000438505.1:n.73-38G>A
ENST00000543476.5:c.286-38G>A	ENSP00000440192.1:n.286-38G>A
ENST00000544970.5:c.286-38G>A	ENSP00000439106.1:n.286-38G>A
NM_024854.3:c.286-38G>A	NP_079130.2:n.286-38G>A
XM_006719153.2:c.286-38G>A	XP_006719216.1:n.286-38G>A
XR_242902.3:n.413-38G>A
NM_001350912.1:c.73-38G>A	NP_001337841.1:n.73-38G>A
NM_001350913.1:c.-418-38G>A	NP_001337842.1:n.-418-38G>A
NM_024854.4:c.286-38G>A	NP_079130.2:n.286-38G>A
XM_006719153.3:c.286-38G>A	XP_006719216.1:n.286-38G>A
XR_242902.4:n.387-38G>A
NM_024854.5:c.286-38G>A MANE Select	NP_079130.2:n.286-38G>A
NM_001350913.2:c.-418-38G>A	NP_001337842.1:n.-418-38G>A
NM_001350912.2:c.73-38G>A	NP_001337841.1:n.73-38G>A