Canonical Allele Identifier: CA12185030
Gene: BTN1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.26510336T>C
GRCh37 chr6:g.26510564T>C
gnomAD v2:
6:26510564 T / C
gnomAD v3:
6:26510336 T / C
gnomAD v4:
chr6-26510336-T-C
Joint Max Group AF 0.72318094 (EAS)
Genomes Max Group AF 0.72318094 (EAS)
Exomes Max Group AF 0.4380509 (NFE)
dbSNP:
1056667
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26510336T>C , CM000668.2:g.26510336T>C GRCh38
NC_000006.11:g.26510564T>C , CM000668.1:g.26510564T>C GRCh37
NC_000006.10:g.26618543T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000684113.1:c.*1162T>C MANE Select ENSP00000507193.1:n.*1162T>C
ENST00000244513.10:c.*1162T>C ENSP00000244513.6:n.*1162T>C
NM_001732.2:c.*1162T>C NP_001723.2:n.*1162T>C
XM_005249340.2:c.*1162T>C XP_005249397.2:n.*1162T>C
XM_005249340.3:c.*1162T>C XP_005249397.2:n.*1162T>C
XR_001744057.2:n.2716+11173A>G
NM_001732.3:c.*1162T>C MANE Select NP_001723.2:n.*1162T>C
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