Canonical Allele Identifier: CA603839998

Gene: PYROXD1

Linked Data

• dbSNP Id: rs1331580402
• gnomAD v2: 12-21602632-T-C
• gnomAD v4: 12-21449698-T-C
• MyVariant Identifiers: chr12:g.21602632T>C (hg19) ; chr12:g.21449698T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449698T>C , CM000674.2:g.21449698T>C	GRCh38
NC_000012.11:g.21602632T>C , CM000674.1:g.21602632T>C	GRCh37
NC_000012.10:g.21493899T>C	NCBI36
NG_053196.1:g.17095T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.414+7T>C MANE Select	ENSP00000240651.9:n.414+7T>C
ENST00000240651.13:c.414+7T>C	ENSP00000240651.9:n.414+7T>C
ENST00000375266.8:c.*340+7T>C	ENSP00000364415.4:n.*340+7T>C
ENST00000538582.5:c.201+7T>C	ENSP00000438505.1:n.201+7T>C
ENST00000543476.5:c.414+7T>C	ENSP00000440192.1:n.414+7T>C
ENST00000544970.5:c.414+7T>C	ENSP00000439106.1:n.414+7T>C
NM_024854.3:c.414+7T>C	NP_079130.2:n.414+7T>C
XM_006719153.2:c.414+7T>C	XP_006719216.1:n.414+7T>C
XR_242902.3:n.541+7T>C
NM_001350912.1:c.201+7T>C	NP_001337841.1:n.201+7T>C
NM_001350913.1:c.-290+7T>C	NP_001337842.1:n.-290+7T>C
NM_024854.4:c.414+7T>C	NP_079130.2:n.414+7T>C
XM_006719153.3:c.414+7T>C	XP_006719216.1:n.414+7T>C
XR_242902.4:n.515+7T>C
NM_024854.5:c.414+7T>C MANE Select	NP_079130.2:n.414+7T>C
NM_001350913.2:c.-290+7T>C	NP_001337842.1:n.-290+7T>C
NM_001350912.2:c.201+7T>C	NP_001337841.1:n.201+7T>C