Canonical Allele Identifier: CA115344
Gene: ANKK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2105
ClinVar RCV Id: RCV000002186 RCV000594759
dbSNP Id: rs1800497
ExAC: 11:113270828 G / A
gnomAD v2: 11-113270828-G-A
gnomAD v3: 11-113400106-G-A
gnomAD v4: 11-113400106-G-A
MyVariant Identifiers: chr11:g.113270828G>A (hg19) chr11:g.113400106G>A (hg38)
PubMed: PMID:1969501 PMID:9429233 PMID:9650634 PMID:10395223 PMID:11105655 PMID:15146457 PMID:15370155 PMID:15479180 PMID:15492764 PMID:17654295 PMID:17767146 PMID:17989061 PMID:18058343 PMID:18063800 PMID:18086475 PMID:18180754 PMID:18579277 PMID:18621654 PMID:18927395 PMID:19339912 PMID:20714340 PMID:22992668 PMID:23851570 PMID:23859574 PMID:26153084 PMID:26872113
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113400106G>A , CM000673.2:g.113400106G>A GRCh38
NC_000011.9:g.113270828G>A , CM000673.1:g.113270828G>A GRCh37
NC_000011.8:g.112776038G>A NCBI36
NG_012976.1:g.17316G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303941.4:c.2137G>A MANE Select ENSP00000306678.3:p.Glu713Lys
ENST00000303941.3:c.2137G>A ENSP00000306678.3:p.Glu713Lys
NM_178510.1:c.2137G>A NP_848605.1:p.Glu713Lys
XM_011542736.1:c.2170G>A XP_011541038.1:p.Glu724Lys
XM_011542737.1:c.2140G>A XP_011541039.1:p.Glu714Lys
XM_011542738.1:c.1948G>A XP_011541040.1:p.Glu650Lys
XM_011542736.2:c.2170G>A XP_011541038.1:p.Glu724Lys
XM_011542737.2:c.2140G>A XP_011541039.1:p.Glu714Lys
XM_011542738.2:c.1948G>A XP_011541040.1:p.Glu650Lys
XM_017017475.1:c.2167G>A XP_016872964.1:p.Glu723Lys
NM_178510.2:c.2137G>A MANE Select NP_848605.1:p.Glu713Lys
Search 100 bp 5'
Search 100 bp 3'