Canonical Allele Identifier: CA12963742

Gene: BARX1

Linked Data

• dbSNP Id: rs11789015
• gnomAD v2: 9-96716028-A-G
• gnomAD v3: 9-93953746-A-G
• gnomAD v4: 9-93953746-A-G
• MyVariant Identifiers: chr9:g.96716028A>G (hg19) ; chr9:g.93953746A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.93953746A>G , CM000671.2:g.93953746A>G	GRCh38
NC_000009.11:g.96716028A>G , CM000671.1:g.96716028A>G	GRCh37
NC_000009.10:g.95755849A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000253968.11:c.224-559T>C MANE Select	ENSP00000253968.5:n.224-559T>C
ENST00000253968.10:c.224-559T>C	ENSP00000253968.5:n.224-559T>C
NM_021570.3:c.224-559T>C	NP_067545.3:n.224-559T>C
NM_021570.4:c.224-559T>C MANE Select	NP_067545.3:n.224-559T>C