Canonical Allele Identifier: CA389466433
Gene: PAX9 HGNC NCBI

Linked Data

gnomAD v4: 14-36663143-T-C
MyVariant Identifiers: chr14:g.37132348T>C (hg19) chr14:g.36663143T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663143T>C , CM000676.2:g.36663143T>C GRCh38
NC_000014.8:g.37132348T>C , CM000676.1:g.37132348T>C GRCh37
NC_000014.7:g.36202099T>C NCBI36
NG_013357.1:g.10576T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.251T>C MANE Select ENSP00000355245.6:p.Val84Ala
ENST00000555639.2:c.251T>C
ENST00000361487.6:c.251T>C ENSP00000355245.6:p.Val84Ala
ENST00000402703.6:c.251T>C ENSP00000384817.2:p.Val84Ala
ENST00000554201.1:c.-311T>C ENSP00000450434.1:n.-311T>C
ENST00000555639.1:n.553T>C
NM_006194.3:c.251T>C NP_006185.1:p.Val84Ala
NM_001372076.1:c.251T>C MANE Select NP_001359005.1:p.Val84Ala
NM_006194.4:c.251T>C NP_006185.1:p.Val84Ala
Search 100 bp 5'
Search 100 bp 3'