Canonical Allele Identifier: CA389466374
Gene: PAX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663115A>C , CM000676.2:g.36663115A>C GRCh38
NC_000014.8:g.37132320A>C , CM000676.1:g.37132320A>C GRCh37
NC_000014.7:g.36202071A>C NCBI36
NG_013357.1:g.10548A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.223A>C MANE Select ENSP00000355245.6:p.Lys75Gln
ENST00000555639.2:c.223A>C ENSP00000501203.1:p.Lys75Gln
ENST00000361487.6:c.223A>C ENSP00000355245.6:p.Lys75Gln
ENST00000402703.6:c.223A>C ENSP00000384817.2:p.Lys75Gln
ENST00000554201.1:c.-339A>C ENSP00000450434.1:n.-339A>C
ENST00000555639.1:n.525A>C
NM_006194.3:c.223A>C NP_006185.1:p.Lys75Gln
NM_001372076.1:c.223A>C MANE Select NP_001359005.1:p.Lys75Gln
NM_006194.4:c.223A>C NP_006185.1:p.Lys75Gln