Canonical Allele Identifier: CA6280800
Gene: ANKK1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.113397337G>T
GRCh37 chr11:g.113268059G>T
Revel Score:
ENST00000303941 (MANE Select) 0.081
gnomAD v2:
11:113268059 G / T
gnomAD v3:
11:113397337 G / T
gnomAD v4:
chr11-113397337-G-T
Joint Max Group AF 0.00040208 (AFR)
Genomes Max Group AF 0.00037875 (AFR)
Exomes Max Group AF 0.00032277 (AFR)
dbSNP:
11604671
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113397337G>T , CM000673.2:g.113397337G>T GRCh38
NC_000011.9:g.113268059G>T , CM000673.1:g.113268059G>T GRCh37
NC_000011.8:g.112773269G>T NCBI36
NG_012976.1:g.14547G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303941.4:c.952G>T MANE Select ENSP00000306678.3:p.Gly318Trp
ENST00000303941.3:c.952G>T ENSP00000306678.3:p.Gly318Trp
NM_178510.1:c.952G>T NP_848605.1:p.Gly318Trp
XM_011542736.1:c.982G>T XP_011541038.1:p.Gly328Trp
XM_011542737.1:c.952G>T XP_011541039.1:p.Gly318Trp
XM_011542738.1:c.760G>T XP_011541040.1:p.Gly254Trp
XM_011542736.2:c.982G>T XP_011541038.1:p.Gly328Trp
XM_011542737.2:c.952G>T XP_011541039.1:p.Gly318Trp
XM_011542738.2:c.760G>T XP_011541040.1:p.Gly254Trp
XM_017017475.1:c.982G>T XP_016872964.1:p.Gly328Trp
NM_178510.2:c.952G>T MANE Select NP_848605.1:p.Gly318Trp
Search 100 bp 5'
Search 100 bp 3'