Canonical Allele Identifier: CA486097742

Gene: PAX9

Linked Data

• MyVariant Identifiers: chr14:g.37132296T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663091T>C , CM000676.2:g.36663091T>C	GRCh38
NC_000014.8:g.37132296T>C , CM000676.1:g.37132296T>C	GRCh37
NC_000014.7:g.36202047T>C	NCBI36
NG_013357.1:g.10524T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.199T>C MANE Select	ENSP00000355245.6:p.Leu67=
ENST00000555639.2:c.199T>C	ENSP00000501203.1:p.Leu67=
ENST00000361487.6:c.199T>C	ENSP00000355245.6:p.Leu67=
ENST00000402703.6:c.199T>C	ENSP00000384817.2:p.Leu67=
ENST00000554201.1:c.-363T>C	ENSP00000450434.1:n.-363T>C
ENST00000555639.1:n.501T>C
NM_006194.3:c.199T>C	NP_006185.1:p.Leu67=
NM_001372076.1:c.199T>C MANE Select	NP_001359005.1:p.Leu67=
NM_006194.4:c.199T>C	NP_006185.1:p.Leu67=