Canonical Allele Identifier: CA400935060
Gene: CD300LF HGNC NCBI
RAB37 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74695788T>A , CM000679.2:g.74695788T>A GRCh38
NC_000017.10:g.72691927T>A , CM000679.1:g.72691927T>A GRCh37
NC_000017.9:g.70203522T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326165.11:c.654A>T (CD300LF) MANE Select ENSP00000327075.6:p.Gln218His
ENST00000301573.13:c.700A>T (CD300LF) ENSP00000301573.9:p.Lys234Ter
ENST00000326165.10:c.654A>T (CD300LF) ENSP00000327075.6:p.Gln218His
ENST00000340415.7:c.72+24130T>A (RAB37) ENSP00000341354.3:n.72+24130T>A
ENST00000343125.8:c.550A>T (CD300LF) ENSP00000343751.4:p.Lys184Ter
ENST00000361254.8:c.685A>T (CD300LF) ENSP00000355294.4:p.Lys229Ter
ENST00000392617.7:n.479+24130T>A (RAB37)
ENST00000402449.8:c.72+24130T>A (RAB37) ENSP00000383934.4:n.72+24130T>A
ENST00000462044.5:c.*29A>T (CD300LF) ENSP00000464223.1:n.*29A>T
ENST00000464910.5:c.663A>T (CD300LF) ENSP00000464257.1:p.Gln221His
ENST00000469092.5:c.550A>T (CD300LF) ENSP00000463743.1:p.Lys184Ter
ENST00000581500.1:c.685A>T (CD300LF) ENSP00000464610.1:p.Lys229Ter
ENST00000583937.5:c.699A>T (CD300LF) ENSP00000462309.1:p.Gln233His
NM_001289082.1:c.550A>T (CD300LF) NP_001276011.1:p.Lys184Ter
NM_001289083.1:c.700A>T (CD300LF) NP_001276012.1:p.Lys234Ter
NM_001289084.1:c.699A>T (CD300LF) NP_001276013.1:p.Gln233His
NM_001289085.1:c.663A>T (CD300LF) NP_001276014.1:p.Gln221His
NM_001289086.1:c.685A>T (CD300LF) NP_001276015.1:p.Lys229Ter
NM_001289087.1:c.631A>T (CD300LF) NP_001276016.1:p.Lys211Ter
NM_139018.4:c.654A>T (CD300LF) NP_620587.2:p.Gln218His
NM_175738.4:c.72+24130T>A (RAB37) NP_783865.1:n.72+24130T>A
NR_110298.1:n.826A>T (CD300LF)
XM_011524369.1:c.786A>T (CD300LF) XP_011522671.1:p.Gln262His
XM_011524370.1:c.777A>T (CD300LF) XP_011522672.1:p.Gln259His
XM_011524371.1:c.777A>T (CD300LF) XP_011522673.1:p.Gln259His
XM_011524372.1:c.741A>T (CD300LF) XP_011522674.1:p.Gln247His
XM_011524373.1:c.732A>T (CD300LF) XP_011522675.1:p.Gln244His
XM_011524374.1:c.732A>T (CD300LF) XP_011522676.1:p.Gln244His
XM_011524375.1:c.708A>T (CD300LF) XP_011522677.1:p.Gln236His
XM_011524376.1:c.763A>T (CD300LF) XP_011522678.1:p.Lys255Ter
XM_011524377.1:c.763A>T (CD300LF) XP_011522679.1:p.Lys255Ter
XM_011524378.1:c.754A>T (CD300LF) XP_011522680.1:p.Lys252Ter
XM_011524379.1:c.718A>T (CD300LF) XP_011522681.1:p.Lys240Ter
XM_017024212.2:c.711A>T (CD300LF) XP_016879701.1:p.Gln237His
XM_017024213.2:c.766A>T (CD300LF) XP_016879702.1:p.Lys256Ter
XM_017024214.2:c.757A>T (CD300LF) XP_016879703.1:p.Lys253Ter
XM_017024215.1:c.709A>T (CD300LF) XP_016879704.1:p.Lys237Ter
XM_017024216.2:c.688A>T (CD300LF) XP_016879705.1:p.Lys230Ter
XM_017024217.2:c.676A>T (CD300LF) XP_016879706.1:p.Lys226Ter
NM_139018.5:c.654A>T (CD300LF) MANE Select NP_620587.2:p.Gln218His
NM_001289082.2:c.550A>T (CD300LF) NP_001276011.1:p.Lys184Ter
NM_001289083.2:c.700A>T (CD300LF) NP_001276012.1:p.Lys234Ter
NM_001289084.2:c.699A>T (CD300LF) NP_001276013.1:p.Gln233His
NM_001289085.2:c.663A>T (CD300LF) NP_001276014.1:p.Gln221His
NM_001289086.2:c.685A>T (CD300LF) NP_001276015.1:p.Lys229Ter
NM_001289087.2:c.631A>T (CD300LF) NP_001276016.1:p.Lys211Ter
NM_175738.5:c.72+24130T>A (RAB37) NP_783865.1:n.72+24130T>A
NR_110298.2:n.749A>T (CD300LF)