Canonical Allele Identifier: CA12145919
Gene: GABRA6 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.161701908C>T
GRCh37 chr5:g.161128914C>T
gnomAD v2:
5:161128914 C / T
gnomAD v3:
5:161701908 C / T
gnomAD v4:
chr5-161701908-C-T
Joint Max Group AF 0.57091936 (NFE)
Genomes Max Group AF 0.56359936 (NFE)
Exomes Max Group AF 0.57134906 (NFE)
ClinVar RCV:
RCV001521757
ClinVar Variation:
1169913
dbSNP:
3219151
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161701908C>T , CM000667.2:g.161701908C>T GRCh38
NC_000005.9:g.161128914C>T , CM000667.1:g.161128914C>T GRCh37
NC_000005.8:g.161061492C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000274545.10:c.*135C>T MANE Select ENSP00000274545.5:n.*135C>T
ENST00000274545.9:c.*135C>T ENSP00000274545.5:n.*135C>T
ENST00000521520.1:n.1490C>T
ENST00000523217.5:c.*135C>T ENSP00000430527.1:n.*135C>T
NM_000811.2:c.*135C>T NP_000802.2:n.*135C>T
NM_000811.3:c.*135C>T MANE Select NP_000802.2:n.*135C>T
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