Canonical Allele Identifier: CA389467085
Gene: PAX9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.37132659A>C (hg19) chr14:g.36663454A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663454A>C , CM000676.2:g.36663454A>C GRCh38
NC_000014.8:g.37132659A>C , CM000676.1:g.37132659A>C GRCh37
NC_000014.7:g.36202410A>C NCBI36
NG_013357.1:g.10887A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.562A>C MANE Select ENSP00000355245.6:p.Met188Leu
ENST00000361487.6:c.562A>C ENSP00000355245.6:p.Met188Leu
ENST00000402703.6:c.562A>C ENSP00000384817.2:p.Met188Leu
ENST00000554201.1:c.1A>C ENSP00000450434.1:p.Met1Leu
NM_006194.3:c.562A>C NP_006185.1:p.Met188Leu
NM_001372076.1:c.562A>C MANE Select NP_001359005.1:p.Met188Leu
NM_006194.4:c.562A>C NP_006185.1:p.Met188Leu
Search 100 bp 5'
Search 100 bp 3'