Canonical Allele Identifier: CA389466342
Gene: PAX9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.37132305G>A (hg19) chr14:g.36663100G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663100G>A , CM000676.2:g.36663100G>A GRCh38
NC_000014.8:g.37132305G>A , CM000676.1:g.37132305G>A GRCh37
NC_000014.7:g.36202056G>A NCBI36
NG_013357.1:g.10533G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.208G>A MANE Select ENSP00000355245.6:p.Ala70Thr
ENST00000555639.2:c.208G>A ENSP00000501203.1:p.Ala70Thr
ENST00000361487.6:c.208G>A ENSP00000355245.6:p.Ala70Thr
ENST00000402703.6:c.208G>A ENSP00000384817.2:p.Ala70Thr
ENST00000554201.1:c.-354G>A ENSP00000450434.1:n.-354G>A
ENST00000555639.1:n.510G>A
NM_006194.3:c.208G>A NP_006185.1:p.Ala70Thr
NM_001372076.1:c.208G>A MANE Select NP_001359005.1:p.Ala70Thr
NM_006194.4:c.208G>A NP_006185.1:p.Ala70Thr
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