Canonical Allele Identifier: CA603840006

Gene: PYROXD1

Linked Data

• ClinVar Variation Id: 2862323
• ClinVar RCV Id: RCV003699787
• dbSNP Id: rs778904159
• gnomAD v2: 12-21602639-G-T
• gnomAD v4: 12-21449705-G-T
• MyVariant Identifiers: chr12:g.21602639G>T (hg19) ; chr12:g.21449705G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449705G>T , CM000674.2:g.21449705G>T	GRCh38
NC_000012.11:g.21602639G>T , CM000674.1:g.21602639G>T	GRCh37
NC_000012.10:g.21493906G>T	NCBI36
NG_053196.1:g.17102G>T

Transcript Alleles

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