Canonical Allele Identifier: CA485930893

Gene: PAX9

Linked Data

• dbSNP Id: rs1488338034
• gnomAD v2: 14-37132679-C-G
• gnomAD v3: 14-36663474-C-G
• gnomAD v4: 14-36663474-C-G
• MyVariant Identifiers: chr14:g.37132679C>G (hg19) ; chr14:g.36663474C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663474C>G , CM000676.2:g.36663474C>G	GRCh38
NC_000014.8:g.37132679C>G , CM000676.1:g.37132679C>G	GRCh37
NC_000014.7:g.36202430C>G	NCBI36
NG_013357.1:g.10907C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361487.7:c.582C>G MANE Select	ENSP00000355245.6:p.Ser194=
ENST00000361487.6:c.582C>G	ENSP00000355245.6:p.Ser194=
ENST00000402703.6:c.582C>G	ENSP00000384817.2:p.Ser194=
ENST00000554201.1:c.21C>G	ENSP00000450434.1:p.Ser7=
NM_006194.3:c.582C>G	NP_006185.1:p.Ser194=
NM_001372076.1:c.582C>G MANE Select	NP_001359005.1:p.Ser194=
NM_006194.4:c.582C>G	NP_006185.1:p.Ser194=