Canonical Allele Identifier: CA389466416

Gene: PAX9

Linked Data

• dbSNP Id: rs1881346823
• gnomAD v4: 14-36663134-C-T
• MyVariant Identifiers: chr14:g.37132339C>T (hg19) ; chr14:g.36663134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663134C>T , CM000676.2:g.36663134C>T	GRCh38
NC_000014.8:g.37132339C>T , CM000676.1:g.37132339C>T	GRCh37
NC_000014.7:g.36202090C>T	NCBI36
NG_013357.1:g.10567C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.242C>T MANE Select	ENSP00000355245.6:p.Pro81Leu
ENST00000555639.2:c.242C>T	ENSP00000501203.1:p.Pro81Leu
ENST00000361487.6:c.242C>T	ENSP00000355245.6:p.Pro81Leu
ENST00000402703.6:c.242C>T	ENSP00000384817.2:p.Pro81Leu
ENST00000554201.1:c.-320C>T	ENSP00000450434.1:n.-320C>T
ENST00000555639.1:n.544C>T
NM_006194.3:c.242C>T	NP_006185.1:p.Pro81Leu
NM_001372076.1:c.242C>T MANE Select	NP_001359005.1:p.Pro81Leu
NM_006194.4:c.242C>T	NP_006185.1:p.Pro81Leu