Canonical Allele Identifier: CA2600209382
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs2118185542
gnomAD v3: 9-93954138-A-G
gnomAD v4: 9-93954138-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93954138A>G , CM000671.2:g.93954138A>G GRCh38
NC_000009.11:g.96716420A>G , CM000671.1:g.96716420A>G GRCh37
NC_000009.10:g.95756241A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.223+786T>C MANE Select ENSP00000253968.5:n.223+786T>C
ENST00000253968.10:c.223+786T>C ENSP00000253968.5:n.223+786T>C
NM_021570.3:c.223+786T>C NP_067545.3:n.223+786T>C
NM_021570.4:c.223+786T>C MANE Select NP_067545.3:n.223+786T>C
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