Canonical Allele Identifier: CA2600209381
Gene: BARX1 HGNC NCBI

Linked Data

dbSNP Id: rs1356774170
gnomAD v3: 9-93954090-G-T
gnomAD v4: 9-93954090-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.93954090G>T , CM000671.2:g.93954090G>T GRCh38
NC_000009.11:g.96716372G>T , CM000671.1:g.96716372G>T GRCh37
NC_000009.10:g.95756193G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253968.11:c.223+834C>A MANE Select ENSP00000253968.5:n.223+834C>A
ENST00000253968.10:c.223+834C>A ENSP00000253968.5:n.223+834C>A
NM_021570.3:c.223+834C>A NP_067545.3:n.223+834C>A
NM_021570.4:c.223+834C>A MANE Select NP_067545.3:n.223+834C>A
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