Canonical Allele Identifier: CA196446599
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs892189894
gnomAD v2: 9-96715633-T-C
gnomAD v3: 9-93953351-T-C
gnomAD v4: 9-93953351-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93953351T>C , CM000671.2:g.93953351T>C GRCh38
NC_000009.11:g.96715633T>C , CM000671.1:g.96715633T>C GRCh37
NC_000009.10:g.95755454T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.224-164A>G MANE Select ENSP00000253968.5:n.224-164A>G
ENST00000253968.10:c.224-164A>G ENSP00000253968.5:n.224-164A>G
ENST00000401724.1:c.-403A>G ENSP00000385613.1:n.-403A>G
NM_021570.3:c.224-164A>G NP_067545.3:n.224-164A>G
NM_021570.4:c.224-164A>G MANE Select NP_067545.3:n.224-164A>G