Canonical Allele Identifier: CA10940572
Gene: GBP6 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.89384015G>A
GRCh37 chr1:g.89849574G>A
gnomAD v2:
1:89849574 G / A
gnomAD v3:
1:89384015 G / A
gnomAD v4:
chr1-89384015-G-A
Joint Max Group AF 0.76557267 (NFE)
Genomes Max Group AF 0.76351666 (NFE)
Exomes Max Group AF 0.76537597 (NFE)
dbSNP:
928655
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.89384015G>A , CM000663.2:g.89384015G>A GRCh38
NC_000001.10:g.89849574G>A , CM000663.1:g.89849574G>A GRCh37
NC_000001.9:g.89622162G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370456.5:c.1469-78G>A MANE Select ENSP00000359485.5:n.1469-78G>A
ENST00000370456.4:c.1469-78G>A ENSP00000359485.4:n.1469-78G>A
NM_198460.2:c.1469-78G>A NP_940862.2:n.1469-78G>A
XM_005270549.3:c.1079-78G>A XP_005270606.1:n.1079-78G>A
XM_011540835.1:c.1469-78G>A XP_011539137.1:n.1469-78G>A
NM_001320257.1:c.1079-78G>A NP_001307186.1:n.1079-78G>A
XM_011540835.3:c.1469-78G>A XP_011539137.1:n.1469-78G>A
NM_198460.3:c.1469-78G>A MANE Select NP_940862.2:n.1469-78G>A
NM_001320257.2:c.1079-78G>A NP_001307186.1:n.1079-78G>A
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