Canonical Allele Identifier: CA589466876

Gene: BARX1

Linked Data

• dbSNP Id: rs1253093071
• gnomAD v2: 9-96716386-A-G
• gnomAD v3: 9-93954104-A-G
• gnomAD v4: 9-93954104-A-G
• MyVariant Identifiers: chr9:g.96716386A>G (hg19) ; chr9:g.93954104A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93954104A>G , CM000671.2:g.93954104A>G	GRCh38
NC_000009.11:g.96716386A>G , CM000671.1:g.96716386A>G	GRCh37
NC_000009.10:g.95756207A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253968.11:c.223+820T>C MANE Select	ENSP00000253968.5:n.223+820T>C
ENST00000253968.10:c.223+820T>C	ENSP00000253968.5:n.223+820T>C
NM_021570.3:c.223+820T>C	NP_067545.3:n.223+820T>C
NM_021570.4:c.223+820T>C MANE Select	NP_067545.3:n.223+820T>C