Canonical Allele Identifier: CA589466851
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs1365734311
gnomAD v2: 9-96715859-A-G
gnomAD v3: 9-93953577-A-G
gnomAD v4: 9-93953577-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93953577A>G , CM000671.2:g.93953577A>G GRCh38
NC_000009.11:g.96715859A>G , CM000671.1:g.96715859A>G GRCh37
NC_000009.10:g.95755680A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.224-390T>C MANE Select ENSP00000253968.5:n.224-390T>C
ENST00000253968.10:c.224-390T>C ENSP00000253968.5:n.224-390T>C
NM_021570.3:c.224-390T>C NP_067545.3:n.224-390T>C
NM_021570.4:c.224-390T>C MANE Select NP_067545.3:n.224-390T>C