Canonical Allele Identifier: CA589466877
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs1318876037
gnomAD v2: 9-96716390-T-G
gnomAD v3: 9-93954108-T-G
gnomAD v4: 9-93954108-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93954108T>G , CM000671.2:g.93954108T>G GRCh38
NC_000009.11:g.96716390T>G , CM000671.1:g.96716390T>G GRCh37
NC_000009.10:g.95756211T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.223+816A>C MANE Select ENSP00000253968.5:n.223+816A>C
ENST00000253968.10:c.223+816A>C ENSP00000253968.5:n.223+816A>C
NM_021570.3:c.223+816A>C NP_067545.3:n.223+816A>C
NM_021570.4:c.223+816A>C MANE Select NP_067545.3:n.223+816A>C