Canonical Allele Identifier: CA389466327
Gene: PAX9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.37132297T>G (hg19) chr14:g.36663092T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663092T>G , CM000676.2:g.36663092T>G GRCh38
NC_000014.8:g.37132297T>G , CM000676.1:g.37132297T>G GRCh37
NC_000014.7:g.36202048T>G NCBI36
NG_013357.1:g.10525T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.200T>G MANE Select ENSP00000355245.6:p.Leu67Trp
ENST00000555639.2:c.200T>G ENSP00000501203.1:p.Leu67Trp
ENST00000361487.6:c.200T>G ENSP00000355245.6:p.Leu67Trp
ENST00000402703.6:c.200T>G ENSP00000384817.2:p.Leu67Trp
ENST00000554201.1:c.-362T>G ENSP00000450434.1:n.-362T>G
ENST00000555639.1:n.502T>G
NM_006194.3:c.200T>G NP_006185.1:p.Leu67Trp
NM_001372076.1:c.200T>G MANE Select NP_001359005.1:p.Leu67Trp
NM_006194.4:c.200T>G NP_006185.1:p.Leu67Trp
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