Canonical Allele Identifier: CA2617908453

Gene: PYROXD1

Linked Data

• gnomAD v4: 12-21449708-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449708G>A , CM000674.2:g.21449708G>A	GRCh38
NC_000012.11:g.21602642G>A , CM000674.1:g.21602642G>A	GRCh37
NC_000012.10:g.21493909G>A	NCBI36
NG_053196.1:g.17105G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.414+17G>A MANE Select	ENSP00000240651.9:n.414+17G>A
ENST00000240651.13:c.414+17G>A	ENSP00000240651.9:n.414+17G>A
ENST00000375266.8:c.*340+17G>A	ENSP00000364415.4:n.*340+17G>A
ENST00000538582.5:c.201+17G>A	ENSP00000438505.1:n.201+17G>A
ENST00000543476.5:c.414+17G>A	ENSP00000440192.1:n.414+17G>A
ENST00000544970.5:c.414+17G>A	ENSP00000439106.1:n.414+17G>A
NM_024854.3:c.414+17G>A	NP_079130.2:n.414+17G>A
XM_006719153.2:c.414+17G>A	XP_006719216.1:n.414+17G>A
XR_242902.3:n.541+17G>A
NM_001350912.1:c.201+17G>A	NP_001337841.1:n.201+17G>A
NM_001350913.1:c.-290+17G>A	NP_001337842.1:n.-290+17G>A
NM_024854.4:c.414+17G>A	NP_079130.2:n.414+17G>A
XM_006719153.3:c.414+17G>A	XP_006719216.1:n.414+17G>A
XR_242902.4:n.515+17G>A
NM_024854.5:c.414+17G>A MANE Select	NP_079130.2:n.414+17G>A
NM_001350913.2:c.-290+17G>A	NP_001337842.1:n.-290+17G>A
NM_001350912.2:c.201+17G>A	NP_001337841.1:n.201+17G>A