Canonical Allele Identifier: CA486097536

Gene: PAX9

Linked Data

• dbSNP Id: rs1459085869
• gnomAD v2: 14-37132202-G-C
• gnomAD v4: 14-36662997-G-C
• MyVariant Identifiers: chr14:g.37132202G>C (hg19) ; chr14:g.36662997G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36662997G>C , CM000676.2:g.36662997G>C	GRCh38
NC_000014.8:g.37132202G>C , CM000676.1:g.37132202G>C	GRCh37
NC_000014.7:g.36201953G>C	NCBI36
NG_013357.1:g.10430G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.105G>C MANE Select	ENSP00000355245.6:p.Leu35=
ENST00000555639.2:c.105G>C	ENSP00000501203.1:p.Leu35=
ENST00000361487.6:c.105G>C	ENSP00000355245.6:p.Leu35=
ENST00000402703.6:c.105G>C	ENSP00000384817.2:p.Leu35=
ENST00000554201.1:c.-457G>C	ENSP00000450434.1:n.-457G>C
ENST00000555639.1:n.407G>C
NM_006194.3:c.105G>C	NP_006185.1:p.Leu35=
NM_001372076.1:c.105G>C MANE Select	NP_001359005.1:p.Leu35=
NM_006194.4:c.105G>C	NP_006185.1:p.Leu35=