Canonical Allele Identifier: CA150785
Gene: FAM111B HGNC NCBI

Linked Data

ClinVar Variation Id: 120217
ClinVar RCV Id: RCV000106317 RCV001268217
dbSNP Id: rs587777236
MyVariant Identifiers: chr11:g.58893431T>G (hg19) chr11:g.59125958T>G (hg38)
PubMed: PMID:17034542 PMID:24268661 PMID:26471370 PMID:27748098
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.59125958T>G , CM000673.2:g.59125958T>G GRCh38
NC_000011.9:g.58893431T>G , CM000673.1:g.58893431T>G GRCh37
NC_000011.8:g.58650007T>G NCBI36
NG_034129.1:g.23774T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000343597.4:c.1861T>G MANE Select ENSP00000341565.3:p.Tyr621Asp
ENST00000343597.3:c.1861T>G ENSP00000341565.3:p.Tyr621Asp
ENST00000411426.1:c.1771T>G ENSP00000393855.1:p.Tyr591Asp
ENST00000529618.5:c.1771T>G ENSP00000432875.1:p.Tyr591Asp
ENST00000620384.1:c.1861T>G ENSP00000483456.1:p.Tyr621Asp
NM_001142703.1:c.1771T>G NP_001136175.1:p.Tyr591Asp
NM_001142704.1:c.1771T>G NP_001136176.1:p.Tyr591Asp
NM_198947.3:c.1861T>G NP_945185.1:p.Tyr621Asp
NM_198947.4:c.1861T>G MANE Select NP_945185.1:p.Tyr621Asp
NM_001142703.2:c.1771T>G NP_001136175.1:p.Tyr591Asp
NM_001142704.2:c.1771T>G NP_001136176.1:p.Tyr591Asp
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