Canonical Allele Identifier: CA3043187
Community Standard Title: NM_198506.5(LRIT3):c.1445A>C (p.Glu482Ala)
Gene: LRIT3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109870194A>C , CM000666.2:g.109870194A>C GRCh38
NC_000004.11:g.110791350A>C , CM000666.1:g.110791350A>C GRCh37
NC_000004.10:g.111010799A>C NCBI36
NG_033249.1:g.27011A>C

Transcript Alleles

HGVS Amino-acid Change
NM_198506.5:c.1445A>C MANE Select NP_940908.3:p.Glu482Ala
ENST00000594814.6:c.1445A>C MANE Select ENSP00000469759.1:p.Glu482Ala
NM_198506.4:c.1445A>C NP_940908.3:p.Glu482Ala
ENST00000327908.3:c.896A>C ENSP00000328222.3:p.Glu299Ala
ENST00000594814.5:c.1445A>C ENSP00000469759.1:p.Glu482Ala
XM_005262979.2:c.896A>C XP_005263036.1:p.Glu299Ala
XM_017008167.1:c.896A>C XP_016863656.1:p.Glu299Ala
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