Canonical Allele Identifier: CA389466263
Gene: PAX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663062T>C , CM000676.2:g.36663062T>C GRCh38
NC_000014.8:g.37132267T>C , CM000676.1:g.37132267T>C GRCh37
NC_000014.7:g.36202018T>C NCBI36
NG_013357.1:g.10495T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.170T>C MANE Select ENSP00000355245.6:p.Leu57Pro
ENST00000555639.2:c.170T>C ENSP00000501203.1:p.Leu57Pro
ENST00000361487.6:c.170T>C ENSP00000355245.6:p.Leu57Pro
ENST00000402703.6:c.170T>C ENSP00000384817.2:p.Leu57Pro
ENST00000554201.1:c.-392T>C ENSP00000450434.1:n.-392T>C
ENST00000555639.1:n.472T>C
NM_006194.3:c.170T>C NP_006185.1:p.Leu57Pro
NM_001372076.1:c.170T>C MANE Select NP_001359005.1:p.Leu57Pro
NM_006194.4:c.170T>C NP_006185.1:p.Leu57Pro