Canonical Allele Identifier: CA5576379
Gene: ANXA11 HGNC NCBI

Linked Data

ClinVar Variation Id: 488354
ClinVar RCV Id: RCV000578149 RCV001860003 RCV003105971
dbSNP Id: rs142083484
ExAC: 10:81930615 C / T
gnomAD v2: 10-81930615-C-T
gnomAD v3: 10-80170859-C-T
gnomAD v4: 10-80170859-C-T
MyVariant Identifiers: chr10:g.81930615C>T (hg19) chr10:g.80170859C>T (hg38)
PubMed: PMID:28469040
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80170859C>T , CM000672.2:g.80170859C>T GRCh38
NC_000010.10:g.81930615C>T , CM000672.1:g.81930615C>T GRCh37
NC_000010.9:g.81920595C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000422982.8:c.112G>A MANE Select ENSP00000404412.2:p.Gly38Arg
ENST00000265447.8:c.13G>A ENSP00000265447.5:p.Gly5Arg
ENST00000372231.7:c.112G>A ENSP00000361305.3:p.Gly38Arg
ENST00000422982.7:c.112G>A ENSP00000404412.2:p.Gly38Arg
ENST00000437799.1:c.112G>A ENSP00000414642.1:p.Gly38Arg
ENST00000438331.5:c.112G>A ENSP00000398610.1:p.Gly38Arg
NM_001157.2:c.112G>A NP_001148.1:p.Gly38Arg
NM_001278407.1:c.112G>A NP_001265336.1:p.Gly38Arg
NM_001278408.1:c.112G>A NP_001265337.1:p.Gly38Arg
NM_001278409.1:c.13G>A NP_001265338.1:p.Gly5Arg
NM_145868.1:c.112G>A NP_665875.1:p.Gly38Arg
NM_145869.1:c.112G>A NP_665876.1:p.Gly38Arg
XM_005269741.3:c.412G>A XP_005269798.1:p.Gly138Arg
XM_005269742.1:c.112G>A XP_005269799.1:p.Gly38Arg
XM_006717813.1:c.112G>A XP_006717876.1:p.Gly38Arg
XM_006717814.2:c.112G>A XP_006717877.1:p.Gly38Arg
XM_011539735.1:c.112G>A XP_011538037.1:p.Gly38Arg
XM_011539736.1:c.112G>A XP_011538038.1:p.Gly38Arg
XM_005269741.4:c.412G>A XP_005269798.1:p.Gly138Arg
XM_006717813.2:c.112G>A XP_006717876.1:p.Gly38Arg
XM_011539736.3:c.112G>A XP_011538038.1:p.Gly38Arg
NM_145868.2:c.112G>A MANE Select NP_665875.1:p.Gly38Arg
NM_001157.3:c.112G>A NP_001148.1:p.Gly38Arg
NM_001278407.2:c.112G>A NP_001265336.1:p.Gly38Arg
NM_001278409.2:c.13G>A NP_001265338.1:p.Gly5Arg
NM_145869.2:c.112G>A NP_665876.1:p.Gly38Arg
NM_001278408.2:c.112G>A NP_001265337.1:p.Gly38Arg
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