Canonical Allele Identifier: CA9786710

Gene: PAX1

Linked Data

• ClinVar Variation Id: 1419768
• ClinVar RCV Id: RCV001910604 ; RCV002471186
• dbSNP Id: rs201542749
• ExAC: 20:21689975 C / G
• gnomAD v2: 20-21689975-C-G
• gnomAD v3: 20-21709337-C-G
• gnomAD v4: 20-21709337-C-G
• MyVariant Identifiers: chr20:g.21689975C>G (hg19) ; chr20:g.21709337C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.21709337C>G , CM000682.2:g.21709337C>G	GRCh38
NC_000020.10:g.21689975C>G , CM000682.1:g.21689975C>G	GRCh37
NC_000020.9:g.21637975C>G	NCBI36
NG_047065.1:g.8679C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613128.5:c.1175C>G MANE Select	ENSP00000481334.1:p.Pro392Arg
ENST00000398485.6:c.1175C>G	ENSP00000381499.2:p.Pro392Arg
ENST00000444366.2:c.1103C>G	ENSP00000410355.2:p.Pro368Arg
ENST00000460221.1:n.502C>G
ENST00000613128.4:c.1175C>G	ENSP00000481334.1:p.Pro392Arg
NM_001257096.1:c.1175C>G	NP_001244025.1:p.Pro392Arg
NM_006192.4:c.1175C>G	NP_006183.2:p.Pro392Arg
NM_006192.5:c.1175C>G	NP_006183.2:p.Pro392Arg
NM_001257096.2:c.1175C>G MANE Select	NP_001244025.1:p.Pro392Arg