Canonical Allele Identifier: CA1126888155
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs1829134655
gnomAD v3: 9-93954154-C-G
gnomAD v4: 9-93954154-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93954154C>G , CM000671.2:g.93954154C>G GRCh38
NC_000009.11:g.96716436C>G , CM000671.1:g.96716436C>G GRCh37
NC_000009.10:g.95756257C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.223+770G>C MANE Select ENSP00000253968.5:n.223+770G>C
ENST00000253968.10:c.223+770G>C ENSP00000253968.5:n.223+770G>C
NM_021570.3:c.223+770G>C NP_067545.3:n.223+770G>C
NM_021570.4:c.223+770G>C MANE Select NP_067545.3:n.223+770G>C