Canonical Allele Identifier: CA589466879
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs1256379200
gnomAD v2: 9-96716416-A-G
gnomAD v3: 9-93954134-A-G
gnomAD v4: 9-93954134-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93954134A>G , CM000671.2:g.93954134A>G GRCh38
NC_000009.11:g.96716416A>G , CM000671.1:g.96716416A>G GRCh37
NC_000009.10:g.95756237A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.223+790T>C MANE Select ENSP00000253968.5:n.223+790T>C
ENST00000253968.10:c.223+790T>C ENSP00000253968.5:n.223+790T>C
NM_021570.3:c.223+790T>C NP_067545.3:n.223+790T>C
NM_021570.4:c.223+790T>C MANE Select NP_067545.3:n.223+790T>C