Canonical Allele Identifier: CA6478199

Gene: PYROXD1

Linked Data

• dbSNP Id: rs751251314
• ExAC: 12:21602662 A / AAAATTCAAT
• MyVariant Identifiers: chr12:g.21602662_21602663insAAATTCAAT (hg19) ; chr12:g.21449728_21449729insAAATTCAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449730_21449731insATTCAATAA , CM000674.2:g.21449730_21449731insATTCAATAA	GRCh38
NC_000012.11:g.21602664_21602665insATTCAATAA , CM000674.1:g.21602664_21602665insATTCAATAA	GRCh37
NC_000012.10:g.21493931_21493932insATTCAATAA	NCBI36
NG_053196.1:g.17127_17128insATTCAATAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.414+39_414+40insATTCAATAA MANE Select	ENSP00000240651.9:n.414+39_414+40insATTCA...
ENST00000240651.13:c.414+39_414+40insATTCAATAA	ENSP00000240651.9:n.414+39_414+40insATTCA...
ENST00000375266.8:c.*340+39_*340+40insATTCAATAA	ENSP00000364415.4:n.*340+39_*340+40insATT...
ENST00000538582.5:c.201+39_201+40insATTCAATAA	ENSP00000438505.1:n.201+39_201+40insATTCA...
ENST00000543476.5:c.414+39_414+40insATTCAATAA	ENSP00000440192.1:n.414+39_414+40insATTCA...
ENST00000544970.5:c.414+39_414+40insATTCAATAA	ENSP00000439106.1:n.414+39_414+40insATTCA...
NM_024854.3:c.414+39_414+40insATTCAATAA	NP_079130.2:n.414+39_414+40insATTCAATAA
XM_006719153.2:c.414+39_414+40insATTCAATAA	XP_006719216.1:n.414+39_414+40insATTCAATA...
XR_242902.3:n.541+39_541+40insATTCAATAA
NM_001350912.1:c.201+39_201+40insATTCAATAA	NP_001337841.1:n.201+39_201+40insATTCAATA...
NM_001350913.1:c.-290+39_-290+40insATTCAATAA	NP_001337842.1:n.-290+39_-290+40insATTCAA...
NM_024854.4:c.414+39_414+40insATTCAATAA	NP_079130.2:n.414+39_414+40insATTCAATAA
XM_006719153.3:c.414+39_414+40insATTCAATAA	XP_006719216.1:n.414+39_414+40insATTCAATA...
XR_242902.4:n.515+39_515+40insATTCAATAA
NM_024854.5:c.414+39_414+40insATTCAATAA MANE Select	NP_079130.2:n.414+39_414+40insATTCAATAA
NM_001350913.2:c.-290+39_-290+40insATTCAATAA	NP_001337842.1:n.-290+39_-290+40insATTCAA...
NM_001350912.2:c.201+39_201+40insATTCAATAA	NP_001337841.1:n.201+39_201+40insATTCAATA...