Canonical Allele Identifier: CA196447000
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs1047793892
gnomAD v2: 9-96716373-G-A
gnomAD v3: 9-93954091-G-A
gnomAD v4: 9-93954091-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93954091G>A , CM000671.2:g.93954091G>A GRCh38
NC_000009.11:g.96716373G>A , CM000671.1:g.96716373G>A GRCh37
NC_000009.10:g.95756194G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.223+833C>T MANE Select ENSP00000253968.5:n.223+833C>T
ENST00000253968.10:c.223+833C>T ENSP00000253968.5:n.223+833C>T
NM_021570.3:c.223+833C>T NP_067545.3:n.223+833C>T
NM_021570.4:c.223+833C>T MANE Select NP_067545.3:n.223+833C>T