Canonical Allele Identifier: CA6059182
Gene: SLC22A6 HGNC NCBI
COSMIC:
COSM5452961 (not active)
MyVariant.info:
GRCh38 chr11:g.62979488C>T
GRCh37 chr11:g.62746960C>T
Revel Score:
ENST00000458333 0.902
ENST00000421062 0.902
ENST00000360421 (MANE Select) 0.932
ENST00000394651 0.932
ENST00000377871 0.932
gnomAD v2:
11:62746960 C / T
gnomAD v3:
11:62979488 C / T
gnomAD v4:
chr11-62979488-C-T
Joint Max Group AF 0.0002762 (SAS)
Genomes Max Group AF 0.00000798 (AFR)
Exomes Max Group AF 0.00028207 (SAS)
dbSNP:
11568634
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62979488C>T , CM000673.2:g.62979488C>T GRCh38
NC_000011.9:g.62746960C>T , CM000673.1:g.62746960C>T GRCh37
NC_000011.8:g.62503536C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360421.9:c.1361G>A MANE Select ENSP00000353597.4:p.Arg454Gln
ENST00000360421.8:c.1361G>A ENSP00000353597.4:p.Arg454Gln
ENST00000377871.7:c.1361G>A ENSP00000367102.3:p.Arg454Gln
ENST00000421062.2:c.1361G>A ENSP00000404441.2:p.Arg454His
ENST00000458333.6:c.1361G>A ENSP00000396401.2:p.Arg454His
ENST00000540654.5:c.*552G>A ENSP00000445946.1:n.*552G>A
NM_004790.4:c.1361G>A NP_004781.2:p.Arg454Gln
NM_153276.2:c.1361G>A NP_695008.1:p.Arg454Gln
NM_153277.2:c.1361G>A NP_695009.1:p.Arg454His
NM_153278.2:c.1361G>A NP_695010.1:p.Arg454His
XM_017018562.2:c.1364G>A XP_016874051.1:p.Arg455Gln
NM_004790.5:c.1361G>A NP_004781.2:p.Arg454Gln
NM_153276.3:c.1361G>A MANE Select NP_695008.1:p.Arg454Gln
NM_153277.3:c.1361G>A NP_695009.1:p.Arg454His
NM_153278.3:c.1361G>A NP_695010.1:p.Arg454His
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