Canonical Allele Identifier: CA196446639
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs554382997
gnomAD v2: 9-96715666-G-C
gnomAD v3: 9-93953384-G-C
gnomAD v4: 9-93953384-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93953384G>C , CM000671.2:g.93953384G>C GRCh38
NC_000009.11:g.96715666G>C , CM000671.1:g.96715666G>C GRCh37
NC_000009.10:g.95755487G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.224-197C>G MANE Select ENSP00000253968.5:n.224-197C>G
ENST00000253968.10:c.224-197C>G ENSP00000253968.5:n.224-197C>G
ENST00000401724.1:c.-436C>G ENSP00000385613.1:n.-436C>G
NM_021570.3:c.224-197C>G NP_067545.3:n.224-197C>G
NM_021570.4:c.224-197C>G MANE Select NP_067545.3:n.224-197C>G