Canonical Allele Identifier: CA6280922
Gene: ANKK1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.113399293G>T
GRCh37 chr11:g.113270015G>T
Revel Score:
ENST00000303941 (MANE Select) 0.018
gnomAD v2:
11:113270015 G / T
gnomAD v3:
11:113399293 G / T
gnomAD v4:
chr11-113399293-G-T
Joint Max Group AF 0.01465764 (AFR)
Genomes Max Group AF 0.01446828 (AFR)
Exomes Max Group AF 0.0142203 (AFR)
ClinVar RCV:
RCV000958160
ClinVar Variation:
777653
dbSNP:
4938016
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113399293G>T , CM000673.2:g.113399293G>T GRCh38
NC_000011.9:g.113270015G>T , CM000673.1:g.113270015G>T GRCh37
NC_000011.8:g.112775225G>T NCBI36
NG_012976.1:g.16503G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303941.4:c.1324G>T MANE Select ENSP00000306678.3:p.Gly442Cys
ENST00000303941.3:c.1324G>T ENSP00000306678.3:p.Gly442Cys
NM_178510.1:c.1324G>T NP_848605.1:p.Gly442Cys
XM_011542736.1:c.1357G>T XP_011541038.1:p.Gly453Cys
XM_011542737.1:c.1327G>T XP_011541039.1:p.Gly443Cys
XM_011542738.1:c.1135G>T XP_011541040.1:p.Gly379Cys
XM_011542736.2:c.1357G>T XP_011541038.1:p.Gly453Cys
XM_011542737.2:c.1327G>T XP_011541039.1:p.Gly443Cys
XM_011542738.2:c.1135G>T XP_011541040.1:p.Gly379Cys
XM_017017475.1:c.1354G>T XP_016872964.1:p.Gly452Cys
NM_178510.2:c.1324G>T MANE Select NP_848605.1:p.Gly442Cys
Search 100 bp 5'
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