Canonical Allele Identifier: CA10693682
Gene: STX6 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.180988826T>G
GRCh37 chr1:g.180957962T>G
gnomAD v2:
1:180957962 T / G
gnomAD v3:
1:180988826 T / G
gnomAD v4:
chr1-180988826-T-G
Joint Max Group AF 0.61517429 (EAS)
Genomes Max Group AF 0.61503076 (EAS)
Exomes Max Group AF 0.56949084 (NFE)
dbSNP:
12754041
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.180988826T>G , CM000663.2:g.180988826T>G GRCh38
NC_000001.10:g.180957962T>G , CM000663.1:g.180957962T>G GRCh37
NC_000001.9:g.179224585T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000258301.6:c.490-481A>C MANE Select ENSP00000258301.5:n.490-481A>C
ENST00000258301.5:c.490-481A>C ENSP00000258301.5:n.490-481A>C
ENST00000469135.1:n.552A>C
ENST00000542060.5:c.187-481A>C ENSP00000440188.1:n.187-481A>C
NM_001286210.1:c.187-481A>C NP_001273139.1:n.187-481A>C
NM_005819.5:c.490-481A>C NP_005810.1:n.490-481A>C
XM_011509058.1:c.490-481A>C XP_011507360.1:n.490-481A>C
XM_011509059.1:c.187-481A>C XP_011507361.1:n.187-481A>C
XM_017000007.1:c.187-481A>C XP_016855496.1:n.187-481A>C
NM_005819.6:c.490-481A>C MANE Select NP_005810.1:n.490-481A>C
NM_001286210.2:c.187-481A>C NP_001273139.1:n.187-481A>C
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