Canonical Allele Identifier: CA679970704

Linked Data

dbSNP Id: rs1378648345

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72109298A>C , CM000673.2:g.72109298A>C GRCh38
NC_000011.9:g.71820344A>C , CM000673.1:g.71820344A>C GRCh37
NC_000011.8:g.71497992A>C NCBI36
NG_021423.1:g.33963A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.*373A>C (TOMT) MANE Select ENSP00000494667.1:n.*373A>C
ENST00000541899.2:c.*373A>C (TOMT) ENSP00000494667.1:n.*373A>C
ENST00000307198.11:c.*373A>C (LRRC51) ENSP00000305742.7:n.*373A>C
ENST00000419228.2:c.*660A>C (LRRC51) ENSP00000392233.2:n.*660A>C
ENST00000427369.6:c.*968A>C (LRRC51) ENSP00000409403.2:n.*968A>C
ENST00000435085.5:c.*373A>C (LRRC51) ENSP00000409789.1:n.*373A>C
ENST00000502597.2:c.63+790T>G (ANAPC15) ENSP00000441774.1:n.63+790T>G
ENST00000538117.5:c.*29T>G (ANAPC15) ENSP00000445212.1:n.*29T>G
ENST00000543050.5:c.318+790T>G (ANAPC15) ENSP00000437360.1:n.318+790T>G
ENST00000544409.5:c.*968A>C (LRRC51) ENSP00000440969.1:n.*968A>C
NM_001145308.4:c.*373A>C (LRTOMT) NP_001138780.1:n.*373A>C
NM_001145309.3:c.*373A>C (LRTOMT) NP_001138781.1:n.*373A>C
NM_001145310.3:c.*373A>C (LRTOMT) NP_001138782.1:n.*373A>C
XM_011544849.1:c.1474A>C (LRTOMT) XP_011543151.1:n.1474A>C
NM_001330321.1:c.318+790T>G (ANAPC15) NP_001317250.1:n.318+790T>G
XM_024448401.1:c.1474A>C (LRTOMT) XP_024304169.1:n.1474A>C
NM_001145308.5:c.*373A>C (LRTOMT) NP_001138780.1:n.*373A>C
NM_001145309.4:c.*373A>C (LRTOMT) NP_001138781.1:n.*373A>C
NM_001145310.4:c.*373A>C (LRTOMT) NP_001138782.1:n.*373A>C
NM_001330321.2:c.318+790T>G (ANAPC15) NP_001317250.1:n.318+790T>G
NM_001393427.1:c.318+790T>G (ANAPC15) NP_001380356.1:n.318+790T>G
NM_001393428.1:c.318+790T>G (ANAPC15) NP_001380357.1:n.318+790T>G
NM_001393429.1:c.318+790T>G (ANAPC15) NP_001380358.1:n.318+790T>G
NM_001393430.1:c.318+790T>G (ANAPC15) NP_001380359.1:n.318+790T>G
NM_001393431.1:c.318+790T>G (ANAPC15) NP_001380360.1:n.318+790T>G
NM_001393443.1:c.319-423T>G (ANAPC15) NP_001380372.1:n.319-423T>G
NM_001393444.1:c.319-423T>G (ANAPC15) NP_001380373.1:n.319-423T>G
NM_001393445.1:c.319-423T>G (ANAPC15) NP_001380374.1:n.319-423T>G
NM_001393459.1:c.63+790T>G (ANAPC15) NP_001380388.1:n.63+790T>G
NM_001393500.1:c.*373A>C (TOMT) NP_001380429.1:n.*373A>C
NR_171687.1:n.498T>G (ANAPC15)
NM_001393500.2:c.*373A>C (TOMT) MANE Select NP_001380429.1:n.*373A>C