Canonical Allele Identifier: CA11462850
Gene: ST6GAL1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.186948673C>T
GRCh37 chr3:g.186666461C>T
gnomAD v2:
3:186666461 C / T
gnomAD v3:
3:186948673 C / T
gnomAD v4:
chr3-186948673-C-T
Joint Max Group AF 0.23330637 (SAS)
Genomes Max Group AF 0.23340258 (SAS)
Exomes Max Group AF 0.07713376 (NFE)
dbSNP:
16861329
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186948673C>T , CM000665.2:g.186948673C>T GRCh38
NC_000003.11:g.186666461C>T , CM000665.1:g.186666461C>T GRCh37
NC_000003.10:g.188149155C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000169298.8:c.-324-15112C>T MANE Select ENSP00000169298.3:n.-324-15112C>T
ENST00000676786.1:n.511-15112C>T
ENST00000677292.1:c.-408-182C>T ENSP00000503457.1:n.-408-182C>T
ENST00000169298.7:c.-324-15112C>T ENSP00000169298.3:n.-324-15112C>T
ENST00000417392.5:c.-324-15112C>T ENSP00000407631.1:n.-324-15112C>T
ENST00000427315.5:c.-87+17839C>T ENSP00000412821.1:n.-87+17839C>T
ENST00000430309.5:c.-324-15112C>T ENSP00000399525.1:n.-324-15112C>T
ENST00000455441.5:c.-228-15112C>T ENSP00000397273.1:n.-228-15112C>T
ENST00000457772.6:c.-360-15112C>T ENSP00000412221.2:n.-360-15112C>T
ENST00000458216.5:c.-374-15112C>T ENSP00000400547.1:n.-374-15112C>T
ENST00000463542.1:n.413+6246C>T
ENST00000468614.1:n.63-15112C>T
ENST00000487031.5:n.310-11C>T
NM_173216.2:c.-324-15112C>T MANE Select NP_775323.1:n.-324-15112C>T
NM_173217.2:c.-360-15112C>T NP_775324.1:n.-360-15112C>T
XM_005247717.2:c.-450-15112C>T XP_005247774.1:n.-450-15112C>T
XM_006713734.1:c.-579-11C>T XP_006713797.1:n.-579-11C>T
XM_011513085.1:c.-325+6246C>T XP_011511387.1:n.-325+6246C>T
XR_924163.1:n.351-15112C>T
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