Canonical Allele Identifier: CA389467098
Gene: PAX9 HGNC NCBI

Linked Data

gnomAD v4: 14-36663458-C-T
MyVariant Identifiers: chr14:g.37132663C>T (hg19) chr14:g.36663458C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663458C>T , CM000676.2:g.36663458C>T GRCh38
NC_000014.8:g.37132663C>T , CM000676.1:g.37132663C>T GRCh37
NC_000014.7:g.36202414C>T NCBI36
NG_013357.1:g.10891C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.566C>T MANE Select ENSP00000355245.6:p.Pro189Leu
ENST00000361487.6:c.566C>T ENSP00000355245.6:p.Pro189Leu
ENST00000402703.6:c.566C>T ENSP00000384817.2:p.Pro189Leu
ENST00000554201.1:c.5C>T ENSP00000450434.1:p.Pro2Leu
NM_006194.3:c.566C>T NP_006185.1:p.Pro189Leu
NM_001372076.1:c.566C>T MANE Select NP_001359005.1:p.Pro189Leu
NM_006194.4:c.566C>T NP_006185.1:p.Pro189Leu
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