Canonical Allele Identifier: CA384301852

Gene: PYROXD1

Linked Data

• dbSNP Id: rs1444242786
• gnomAD v2: 12-21602534-A-G
• gnomAD v4: 12-21449600-A-G
• MyVariant Identifiers: chr12:g.21602534A>G (hg19) ; chr12:g.21449600A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449600A>G , CM000674.2:g.21449600A>G	GRCh38
NC_000012.11:g.21602534A>G , CM000674.1:g.21602534A>G	GRCh37
NC_000012.10:g.21493801A>G	NCBI36
NG_053196.1:g.16997A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.323A>G MANE Select	ENSP00000240651.9:p.Lys108Arg
ENST00000240651.13:c.323A>G	ENSP00000240651.9:p.Lys108Arg
ENST00000375266.8:c.*249A>G	ENSP00000364415.4:n.*249A>G
ENST00000538582.5:c.110A>G	ENSP00000438505.1:p.Lys37Arg
ENST00000543476.5:c.323A>G	ENSP00000440192.1:p.Lys108Arg
ENST00000544970.5:c.323A>G	ENSP00000439106.1:p.Lys108Arg
NM_024854.3:c.323A>G	NP_079130.2:p.Lys108Arg
XM_006719153.2:c.323A>G	XP_006719216.1:p.Lys108Arg
XR_242902.3:n.450A>G
NM_001350912.1:c.110A>G	NP_001337841.1:p.Lys37Arg
NM_001350913.1:c.-381A>G	NP_001337842.1:n.-381A>G
NM_024854.4:c.323A>G	NP_079130.2:p.Lys108Arg
XM_006719153.3:c.323A>G	XP_006719216.1:p.Lys108Arg
XR_242902.4:n.424A>G
NM_024854.5:c.323A>G MANE Select	NP_079130.2:p.Lys108Arg
NM_001350913.2:c.-381A>G	NP_001337842.1:n.-381A>G
NM_001350912.2:c.110A>G	NP_001337841.1:p.Lys37Arg