Canonical Allele Identifier: CA400935101
Gene: CD300LF HGNC NCBI
RAB37 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74695805C>A , CM000679.2:g.74695805C>A GRCh38
NC_000017.10:g.72691944C>A , CM000679.1:g.72691944C>A GRCh37
NC_000017.9:g.70203539C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326165.11:c.637G>T (CD300LF) MANE Select ENSP00000327075.6:p.Ala213Ser
ENST00000301573.13:c.683G>T (CD300LF) ENSP00000301573.9:p.Gly228Val
ENST00000326165.10:c.637G>T (CD300LF) ENSP00000327075.6:p.Ala213Ser
ENST00000340415.7:c.72+24147C>A (RAB37) ENSP00000341354.3:n.72+24147C>A
ENST00000343125.8:c.533G>T (CD300LF) ENSP00000343751.4:p.Gly178Val
ENST00000361254.8:c.668G>T (CD300LF) ENSP00000355294.4:p.Gly223Val
ENST00000392617.7:n.479+24147C>A (RAB37)
ENST00000402449.8:c.72+24147C>A (RAB37) ENSP00000383934.4:n.72+24147C>A
ENST00000462044.5:c.*12G>T (CD300LF) ENSP00000464223.1:n.*12G>T
ENST00000464910.5:c.646G>T (CD300LF) ENSP00000464257.1:p.Ala216Ser
ENST00000469092.5:c.533G>T (CD300LF) ENSP00000463743.1:p.Gly178Val
ENST00000581500.1:c.668G>T (CD300LF) ENSP00000464610.1:p.Gly223Val
ENST00000583937.5:c.682G>T (CD300LF) ENSP00000462309.1:p.Ala228Ser
NM_001289082.1:c.533G>T (CD300LF) NP_001276011.1:p.Gly178Val
NM_001289083.1:c.683G>T (CD300LF) NP_001276012.1:p.Gly228Val
NM_001289084.1:c.682G>T (CD300LF) NP_001276013.1:p.Ala228Ser
NM_001289085.1:c.646G>T (CD300LF) NP_001276014.1:p.Ala216Ser
NM_001289086.1:c.668G>T (CD300LF) NP_001276015.1:p.Gly223Val
NM_001289087.1:c.614G>T (CD300LF) NP_001276016.1:p.Gly205Val
NM_139018.4:c.637G>T (CD300LF) NP_620587.2:p.Ala213Ser
NM_175738.4:c.72+24147C>A (RAB37) NP_783865.1:n.72+24147C>A
NR_110298.1:n.809G>T (CD300LF)
XM_011524369.1:c.769G>T (CD300LF) XP_011522671.1:p.Ala257Ser
XM_011524370.1:c.760G>T (CD300LF) XP_011522672.1:p.Ala254Ser
XM_011524371.1:c.760G>T (CD300LF) XP_011522673.1:p.Ala254Ser
XM_011524372.1:c.724G>T (CD300LF) XP_011522674.1:p.Ala242Ser
XM_011524373.1:c.715G>T (CD300LF) XP_011522675.1:p.Ala239Ser
XM_011524374.1:c.715G>T (CD300LF) XP_011522676.1:p.Ala239Ser
XM_011524375.1:c.691G>T (CD300LF) XP_011522677.1:p.Ala231Ser
XM_011524376.1:c.746G>T (CD300LF) XP_011522678.1:p.Gly249Val
XM_011524377.1:c.746G>T (CD300LF) XP_011522679.1:p.Gly249Val
XM_011524378.1:c.737G>T (CD300LF) XP_011522680.1:p.Gly246Val
XM_011524379.1:c.701G>T (CD300LF) XP_011522681.1:p.Gly234Val
XM_017024212.2:c.694G>T (CD300LF) XP_016879701.1:p.Ala232Ser
XM_017024213.2:c.749G>T (CD300LF) XP_016879702.1:p.Gly250Val
XM_017024214.2:c.740G>T (CD300LF) XP_016879703.1:p.Gly247Val
XM_017024215.1:c.692G>T (CD300LF) XP_016879704.1:p.Gly231Val
XM_017024216.2:c.671G>T (CD300LF) XP_016879705.1:p.Gly224Val
XM_017024217.2:c.659G>T (CD300LF) XP_016879706.1:p.Gly220Val
NM_139018.5:c.637G>T (CD300LF) MANE Select NP_620587.2:p.Ala213Ser
NM_001289082.2:c.533G>T (CD300LF) NP_001276011.1:p.Gly178Val
NM_001289083.2:c.683G>T (CD300LF) NP_001276012.1:p.Gly228Val
NM_001289084.2:c.682G>T (CD300LF) NP_001276013.1:p.Ala228Ser
NM_001289085.2:c.646G>T (CD300LF) NP_001276014.1:p.Ala216Ser
NM_001289086.2:c.668G>T (CD300LF) NP_001276015.1:p.Gly223Val
NM_001289087.2:c.614G>T (CD300LF) NP_001276016.1:p.Gly205Val
NM_175738.5:c.72+24147C>A (RAB37) NP_783865.1:n.72+24147C>A
NR_110298.2:n.732G>T (CD300LF)