Canonical Allele Identifier: CA13478396
Gene: BMAL1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.13276938T>C
GRCh37 chr11:g.13298485T>C
gnomAD v2:
11:13298485 T / C
gnomAD v3:
11:13276938 T / C
gnomAD v4:
chr11-13276938-T-C
Joint Max Group AF 0.69717388 (NFE)
Genomes Max Group AF 0.69717078 (NFE)
Exomes Max Group AF 0.2044221 (NFE)
dbSNP:
2279287
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13276938T>C , CM000673.2:g.13276938T>C GRCh38
NC_000011.9:g.13298485T>C , CM000673.1:g.13298485T>C GRCh37
NC_000011.8:g.13255061T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000529050.5:c.-216T>C ENSP00000434044.1:n.-216T>C
ENST00000534544.5:c.-342T>C ENSP00000431566.1:n.-342T>C
XR_931047.1:n.635A>G
NM_001351804.1:c.-397T>C NP_001338733.1:n.-397T>C
XM_011520105.3:c.-87T>C XP_011518407.2:n.-87T>C
XM_011520107.3:c.-87T>C XP_011518409.2:n.-87T>C
XM_017017738.2:c.-87T>C XP_016873227.1:n.-87T>C
XM_017017739.2:c.-87T>C XP_016873228.1:n.-87T>C
XR_001747876.2:n.387T>C
XR_002957147.1:n.387T>C
XR_002957148.1:n.387T>C
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