Canonical Allele Identifier: CA400935003
Gene: CD300LF HGNC NCBI
RAB37 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74695767G>T , CM000679.2:g.74695767G>T GRCh38
NC_000017.10:g.72691906G>T , CM000679.1:g.72691906G>T GRCh37
NC_000017.9:g.70203501G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326165.11:c.675C>A (CD300LF) MANE Select ENSP00000327075.6:p.Ser225=
ENST00000301573.13:c.721C>A (CD300LF) ENSP00000301573.9:p.Leu241Ile
ENST00000326165.10:c.675C>A (CD300LF) ENSP00000327075.6:p.Ser225=
ENST00000340415.7:c.72+24109G>T (RAB37) ENSP00000341354.3:n.72+24109G>T
ENST00000343125.8:c.571C>A (CD300LF) ENSP00000343751.4:p.Leu191Ile
ENST00000361254.8:c.706C>A (CD300LF) ENSP00000355294.4:p.Leu236Ile
ENST00000392617.7:n.479+24109G>T (RAB37)
ENST00000402449.8:c.72+24109G>T (RAB37) ENSP00000383934.4:n.72+24109G>T
ENST00000462044.5:c.*50C>A (CD300LF) ENSP00000464223.1:n.*50C>A
ENST00000464910.5:c.684C>A (CD300LF) ENSP00000464257.1:p.Ser228=
ENST00000469092.5:c.571C>A (CD300LF) ENSP00000463743.1:p.Leu191Ile
ENST00000581500.1:c.706C>A (CD300LF) ENSP00000464610.1:p.Leu236Ile
ENST00000583937.5:c.720C>A (CD300LF) ENSP00000462309.1:p.Ser240=
NM_001289082.1:c.571C>A (CD300LF) NP_001276011.1:p.Leu191Ile
NM_001289083.1:c.721C>A (CD300LF) NP_001276012.1:p.Leu241Ile
NM_001289084.1:c.720C>A (CD300LF) NP_001276013.1:p.Ser240=
NM_001289085.1:c.684C>A (CD300LF) NP_001276014.1:p.Ser228=
NM_001289086.1:c.706C>A (CD300LF) NP_001276015.1:p.Leu236Ile
NM_001289087.1:c.652C>A (CD300LF) NP_001276016.1:p.Leu218Ile
NM_139018.4:c.675C>A (CD300LF) NP_620587.2:p.Ser225=
NM_175738.4:c.72+24109G>T (RAB37) NP_783865.1:n.72+24109G>T
NR_110298.1:n.847C>A (CD300LF)
XM_011524369.1:c.807C>A (CD300LF) XP_011522671.1:p.Ser269=
XM_011524370.1:c.798C>A (CD300LF) XP_011522672.1:p.Ser266=
XM_011524371.1:c.798C>A (CD300LF) XP_011522673.1:p.Ser266=
XM_011524372.1:c.762C>A (CD300LF) XP_011522674.1:p.Ser254=
XM_011524373.1:c.753C>A (CD300LF) XP_011522675.1:p.Ser251=
XM_011524374.1:c.753C>A (CD300LF) XP_011522676.1:p.Ser251=
XM_011524375.1:c.729C>A (CD300LF) XP_011522677.1:p.Ser243=
XM_011524376.1:c.784C>A (CD300LF) XP_011522678.1:p.Leu262Ile
XM_011524377.1:c.784C>A (CD300LF) XP_011522679.1:p.Leu262Ile
XM_011524378.1:c.775C>A (CD300LF) XP_011522680.1:p.Leu259Ile
XM_011524379.1:c.739C>A (CD300LF) XP_011522681.1:p.Leu247Ile
XM_017024212.2:c.732C>A (CD300LF) XP_016879701.1:p.Ser244=
XM_017024213.2:c.787C>A (CD300LF) XP_016879702.1:p.Leu263Ile
XM_017024214.2:c.778C>A (CD300LF) XP_016879703.1:p.Leu260Ile
XM_017024215.1:c.730C>A (CD300LF) XP_016879704.1:p.Leu244Ile
XM_017024216.2:c.709C>A (CD300LF) XP_016879705.1:p.Leu237Ile
XM_017024217.2:c.697C>A (CD300LF) XP_016879706.1:p.Leu233Ile
NM_139018.5:c.675C>A (CD300LF) MANE Select NP_620587.2:p.Ser225=
NM_001289082.2:c.571C>A (CD300LF) NP_001276011.1:p.Leu191Ile
NM_001289083.2:c.721C>A (CD300LF) NP_001276012.1:p.Leu241Ile
NM_001289084.2:c.720C>A (CD300LF) NP_001276013.1:p.Ser240=
NM_001289085.2:c.684C>A (CD300LF) NP_001276014.1:p.Ser228=
NM_001289086.2:c.706C>A (CD300LF) NP_001276015.1:p.Leu236Ile
NM_001289087.2:c.652C>A (CD300LF) NP_001276016.1:p.Leu218Ile
NM_175738.5:c.72+24109G>T (RAB37) NP_783865.1:n.72+24109G>T
NR_110298.2:n.770C>A (CD300LF)