Canonical Allele Identifier: CA400935215
Gene: CD300LF HGNC NCBI
RAB37 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74695847G>T , CM000679.2:g.74695847G>T GRCh38
NC_000017.10:g.72691986G>T , CM000679.1:g.72691986G>T GRCh37
NC_000017.9:g.70203581G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326165.11:c.595C>A (CD300LF) MANE Select ENSP00000327075.6:p.Leu199Met
ENST00000301573.13:c.641C>A (CD300LF) ENSP00000301573.9:p.Pro214His
ENST00000326165.10:c.595C>A (CD300LF) ENSP00000327075.6:p.Leu199Met
ENST00000340415.7:c.72+24189G>T (RAB37) ENSP00000341354.3:n.72+24189G>T
ENST00000343125.8:c.491C>A (CD300LF) ENSP00000343751.4:p.Pro164His
ENST00000361254.8:c.626C>A (CD300LF) ENSP00000355294.4:p.Pro209His
ENST00000392617.7:n.479+24189G>T (RAB37)
ENST00000402449.8:c.72+24189G>T (RAB37) ENSP00000383934.4:n.72+24189G>T
ENST00000462044.5:c.468C>A (CD300LF) ENSP00000464223.1:p.Pro156=
ENST00000464910.5:c.604C>A (CD300LF) ENSP00000464257.1:p.Leu202Met
ENST00000469092.5:c.491C>A (CD300LF) ENSP00000463743.1:p.Pro164His
ENST00000581500.1:c.626C>A (CD300LF) ENSP00000464610.1:p.Pro209His
ENST00000583937.5:c.640C>A (CD300LF) ENSP00000462309.1:p.Leu214Met
NM_001289082.1:c.491C>A (CD300LF) NP_001276011.1:p.Pro164His
NM_001289083.1:c.641C>A (CD300LF) NP_001276012.1:p.Pro214His
NM_001289084.1:c.640C>A (CD300LF) NP_001276013.1:p.Leu214Met
NM_001289085.1:c.604C>A (CD300LF) NP_001276014.1:p.Leu202Met
NM_001289086.1:c.626C>A (CD300LF) NP_001276015.1:p.Pro209His
NM_001289087.1:c.572C>A (CD300LF) NP_001276016.1:p.Pro191His
NM_139018.4:c.595C>A (CD300LF) NP_620587.2:p.Leu199Met
NM_175738.4:c.72+24189G>T (RAB37) NP_783865.1:n.72+24189G>T
NR_110298.1:n.767C>A (CD300LF)
XM_011524369.1:c.727C>A (CD300LF) XP_011522671.1:p.Leu243Met
XM_011524370.1:c.718C>A (CD300LF) XP_011522672.1:p.Leu240Met
XM_011524371.1:c.718C>A (CD300LF) XP_011522673.1:p.Leu240Met
XM_011524372.1:c.682C>A (CD300LF) XP_011522674.1:p.Leu228Met
XM_011524373.1:c.673C>A (CD300LF) XP_011522675.1:p.Leu225Met
XM_011524374.1:c.673C>A (CD300LF) XP_011522676.1:p.Leu225Met
XM_011524375.1:c.649C>A (CD300LF) XP_011522677.1:p.Leu217Met
XM_011524376.1:c.704C>A (CD300LF) XP_011522678.1:p.Pro235His
XM_011524377.1:c.704C>A (CD300LF) XP_011522679.1:p.Pro235His
XM_011524378.1:c.695C>A (CD300LF) XP_011522680.1:p.Pro232His
XM_011524379.1:c.659C>A (CD300LF) XP_011522681.1:p.Pro220His
XM_017024212.2:c.652C>A (CD300LF) XP_016879701.1:p.Leu218Met
XM_017024213.2:c.707C>A (CD300LF) XP_016879702.1:p.Pro236His
XM_017024214.2:c.698C>A (CD300LF) XP_016879703.1:p.Pro233His
XM_017024215.1:c.650C>A (CD300LF) XP_016879704.1:p.Pro217His
XM_017024216.2:c.629C>A (CD300LF) XP_016879705.1:p.Pro210His
XM_017024217.2:c.617C>A (CD300LF) XP_016879706.1:p.Pro206His
NM_139018.5:c.595C>A (CD300LF) MANE Select NP_620587.2:p.Leu199Met
NM_001289082.2:c.491C>A (CD300LF) NP_001276011.1:p.Pro164His
NM_001289083.2:c.641C>A (CD300LF) NP_001276012.1:p.Pro214His
NM_001289084.2:c.640C>A (CD300LF) NP_001276013.1:p.Leu214Met
NM_001289085.2:c.604C>A (CD300LF) NP_001276014.1:p.Leu202Met
NM_001289086.2:c.626C>A (CD300LF) NP_001276015.1:p.Pro209His
NM_001289087.2:c.572C>A (CD300LF) NP_001276016.1:p.Pro191His
NM_175738.5:c.72+24189G>T (RAB37) NP_783865.1:n.72+24189G>T
NR_110298.2:n.690C>A (CD300LF)