Canonical Allele Identifier: CA196446795
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs1017837714
gnomAD v2: 9-96716047-T-C
gnomAD v3: 9-93953765-T-C
gnomAD v4: 9-93953765-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93953765T>C , CM000671.2:g.93953765T>C GRCh38
NC_000009.11:g.96716047T>C , CM000671.1:g.96716047T>C GRCh37
NC_000009.10:g.95755868T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.224-578A>G MANE Select ENSP00000253968.5:n.224-578A>G
ENST00000253968.10:c.224-578A>G ENSP00000253968.5:n.224-578A>G
NM_021570.3:c.224-578A>G NP_067545.3:n.224-578A>G
NM_021570.4:c.224-578A>G MANE Select NP_067545.3:n.224-578A>G