Canonical Allele Identifier: CA389466273
Gene: PAX9 HGNC NCBI

Linked Data

gnomAD v4: 14-36663068-G-A
MyVariant Identifiers: chr14:g.37132273G>A (hg19) chr14:g.36663068G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663068G>A , CM000676.2:g.36663068G>A GRCh38
NC_000014.8:g.37132273G>A , CM000676.1:g.37132273G>A GRCh37
NC_000014.7:g.36202024G>A NCBI36
NG_013357.1:g.10501G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.176G>A MANE Select ENSP00000355245.6:p.Arg59Gln
ENST00000555639.2:c.176G>A ENSP00000501203.1:p.Arg59Gln
ENST00000361487.6:c.176G>A ENSP00000355245.6:p.Arg59Gln
ENST00000402703.6:c.176G>A ENSP00000384817.2:p.Arg59Gln
ENST00000554201.1:c.-386G>A ENSP00000450434.1:n.-386G>A
ENST00000555639.1:n.478G>A
NM_006194.3:c.176G>A NP_006185.1:p.Arg59Gln
NM_001372076.1:c.176G>A MANE Select NP_001359005.1:p.Arg59Gln
NM_006194.4:c.176G>A NP_006185.1:p.Arg59Gln
Search 100 bp 5'
Search 100 bp 3'