Canonical Allele Identifier: CA196447021
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs1051406980
gnomAD v3: 9-93954130-C-T
gnomAD v4: 9-93954130-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93954130C>T , CM000671.2:g.93954130C>T GRCh38
NC_000009.11:g.96716412C>T , CM000671.1:g.96716412C>T GRCh37
NC_000009.10:g.95756233C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.223+794G>A MANE Select ENSP00000253968.5:n.223+794G>A
ENST00000253968.10:c.223+794G>A ENSP00000253968.5:n.223+794G>A
NM_021570.3:c.223+794G>A NP_067545.3:n.223+794G>A
NM_021570.4:c.223+794G>A MANE Select NP_067545.3:n.223+794G>A