Canonical Allele Identifier: CA589466857
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs1384549563
gnomAD v2: 9-96715959-C-T
gnomAD v3: 9-93953677-C-T
gnomAD v4: 9-93953677-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93953677C>T , CM000671.2:g.93953677C>T GRCh38
NC_000009.11:g.96715959C>T , CM000671.1:g.96715959C>T GRCh37
NC_000009.10:g.95755780C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.224-490G>A MANE Select ENSP00000253968.5:n.224-490G>A
ENST00000253968.10:c.224-490G>A ENSP00000253968.5:n.224-490G>A
NM_021570.3:c.224-490G>A NP_067545.3:n.224-490G>A
NM_021570.4:c.224-490G>A MANE Select NP_067545.3:n.224-490G>A