Canonical Allele Identifier: CA389466159
Gene: PAX9 HGNC NCBI

Linked Data

gnomAD v4: 14-36663015-C-A
MyVariant Identifiers: chr14:g.37132220C>A (hg19) chr14:g.36663015C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663015C>A , CM000676.2:g.36663015C>A GRCh38
NC_000014.8:g.37132220C>A , CM000676.1:g.37132220C>A GRCh37
NC_000014.7:g.36201971C>A NCBI36
NG_013357.1:g.10448C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.123C>A MANE Select ENSP00000355245.6:p.Asp41Glu
ENST00000555639.2:c.123C>A ENSP00000501203.1:p.Asp41Glu
ENST00000361487.6:c.123C>A ENSP00000355245.6:p.Asp41Glu
ENST00000402703.6:c.123C>A ENSP00000384817.2:p.Asp41Glu
ENST00000554201.1:c.-439C>A ENSP00000450434.1:n.-439C>A
ENST00000555639.1:n.425C>A
NM_006194.3:c.123C>A NP_006185.1:p.Asp41Glu
NM_001372076.1:c.123C>A MANE Select NP_001359005.1:p.Asp41Glu
NM_006194.4:c.123C>A NP_006185.1:p.Asp41Glu
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