Canonical Allele Identifier: CA6280923
Gene: ANKK1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.113399293G>A
GRCh37 chr11:g.113270015G>A
Revel Score:
ENST00000303941 (MANE Select) 0.010
gnomAD v2:
11:113270015 G / A
gnomAD v3:
11:113399293 G / A
gnomAD v4:
chr11-113399293-G-A
Joint Max Group AF 0.00091905 (SAS)
Genomes Max Group AF 0.00016894 (SAS)
Exomes Max Group AF 0.00093985 (SAS)
dbSNP:
4938016
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000303941.4:c.1324G>A MANE Select ENSP00000306678.3:p.Gly442Ser
ENST00000303941.3:c.1324G>A ENSP00000306678.3:p.Gly442Ser
NM_178510.1:c.1324G>A NP_848605.1:p.Gly442Ser
XM_011542736.1:c.1357G>A XP_011541038.1:p.Gly453Ser
XM_011542737.1:c.1327G>A XP_011541039.1:p.Gly443Ser
XM_011542738.1:c.1135G>A XP_011541040.1:p.Gly379Ser
XM_011542736.2:c.1357G>A XP_011541038.1:p.Gly453Ser
XM_011542737.2:c.1327G>A XP_011541039.1:p.Gly443Ser
XM_011542738.2:c.1135G>A XP_011541040.1:p.Gly379Ser
XM_017017475.1:c.1354G>A XP_016872964.1:p.Gly452Ser
NM_178510.2:c.1324G>A MANE Select NP_848605.1:p.Gly442Ser
Search 100 bp 5'
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