Canonical Allele Identifier: CA589466875
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs1242727275
gnomAD v2: 9-96716378-G-C
gnomAD v3: 9-93954096-G-C
gnomAD v4: 9-93954096-G-C
MyVariant Identifiers: chr9:g.96716378G>C (hg19) chr9:g.93954096G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93954096G>C , CM000671.2:g.93954096G>C GRCh38
NC_000009.11:g.96716378G>C , CM000671.1:g.96716378G>C GRCh37
NC_000009.10:g.95756199G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.223+828C>G MANE Select ENSP00000253968.5:n.223+828C>G
ENST00000253968.10:c.223+828C>G ENSP00000253968.5:n.223+828C>G
NM_021570.3:c.223+828C>G NP_067545.3:n.223+828C>G
NM_021570.4:c.223+828C>G MANE Select NP_067545.3:n.223+828C>G
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