Canonical Allele Identifier: CA389466322
Gene: PAX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663090C>G , CM000676.2:g.36663090C>G GRCh38
NC_000014.8:g.37132295C>G , CM000676.1:g.37132295C>G GRCh37
NC_000014.7:g.36202046C>G NCBI36
NG_013357.1:g.10523C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.198C>G MANE Select ENSP00000355245.6:p.Ile66Met
ENST00000555639.2:c.198C>G ENSP00000501203.1:p.Ile66Met
ENST00000361487.6:c.198C>G ENSP00000355245.6:p.Ile66Met
ENST00000402703.6:c.198C>G ENSP00000384817.2:p.Ile66Met
ENST00000554201.1:c.-364C>G ENSP00000450434.1:n.-364C>G
ENST00000555639.1:n.500C>G
NM_006194.3:c.198C>G NP_006185.1:p.Ile66Met
NM_001372076.1:c.198C>G MANE Select NP_001359005.1:p.Ile66Met
NM_006194.4:c.198C>G NP_006185.1:p.Ile66Met