Canonical Allele Identifier: CA589584123
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs1401070418
gnomAD v2: 9-96715628-G-T
gnomAD v3: 9-93953346-G-T
gnomAD v4: 9-93953346-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93953346G>T , CM000671.2:g.93953346G>T GRCh38
NC_000009.11:g.96715628G>T , CM000671.1:g.96715628G>T GRCh37
NC_000009.10:g.95755449G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.224-159C>A MANE Select ENSP00000253968.5:n.224-159C>A
ENST00000253968.10:c.224-159C>A ENSP00000253968.5:n.224-159C>A
ENST00000401724.1:c.-398C>A ENSP00000385613.1:n.-398C>A
NM_021570.3:c.224-159C>A NP_067545.3:n.224-159C>A
NM_021570.4:c.224-159C>A MANE Select NP_067545.3:n.224-159C>A