Canonical Allele Identifier: CA6832103
Community Standard Title: NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120999307A>G , CM000674.2:g.120999307A>G GRCh38
NC_000012.11:g.121437110A>G , CM000674.1:g.121437110A>G GRCh37
NC_000012.10:g.119921493A>G NCBI36
NG_011731.2:g.25562A>G , LRG_522:g.25562A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000545.8:c.1541A>G MANE Select NP_000536.6:p.His514Arg
ENST00000257555.11:c.1541A>G MANE Select ENSP00000257555.5:p.His514Arg
NM_000545.5:c.1541A>G , LRG_522t1:c.1541A>G NP_000536.5:p.His514Arg
NM_000545.6:c.1541A>G NP_000536.5:p.His514Arg
NM_001306179.1:c.1541A>G NP_001293108.1:p.His514Arg
NM_001306179.2:c.1541A>G NP_001293108.2:p.His514Arg
ENST00000257555.10:c.1541A>G ENSP00000257555.4:p.His514Arg
ENST00000540108.1:c.*981A>G ENSP00000445445.1:n.*981A>G
ENST00000541395.5:c.1541A>G ENSP00000443112.1:p.His514Arg
ENST00000543427.5:c.1004A>G ENSP00000439721.2:p.His335Arg
ENST00000544413.2:c.1541A>G ENSP00000438804.1:p.His514Arg
ENST00000560968.5:c.1358A>G
ENST00000560968.6:c.*288A>G ENSP00000453965.2:n.*288A>G
ENST00000615446.4:c.329A>G ENSP00000483994.1:p.His110Arg
ENST00000617366.4:c.658A>G ENSP00000481967.1:p.Thr220Ala
XM_005253931.2:c.1541A>G XP_005253988.1:p.His514Arg
XM_024449168.1:c.1541A>G XP_024304936.1:p.His514Arg
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