Canonical Allele Identifier: CA400935225
Gene: CD300LF HGNC NCBI
RAB37 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74695851C>G , CM000679.2:g.74695851C>G GRCh38
NC_000017.10:g.72691990C>G , CM000679.1:g.72691990C>G GRCh37
NC_000017.9:g.70203585C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326165.11:c.591G>C (CD300LF) MANE Select ENSP00000327075.6:p.Gln197His
ENST00000301573.13:c.637G>C (CD300LF) ENSP00000301573.9:p.Ala213Pro
ENST00000326165.10:c.591G>C (CD300LF) ENSP00000327075.6:p.Gln197His
ENST00000340415.7:c.72+24193C>G (RAB37) ENSP00000341354.3:n.72+24193C>G
ENST00000343125.8:c.487G>C (CD300LF) ENSP00000343751.4:p.Ala163Pro
ENST00000361254.8:c.622G>C (CD300LF) ENSP00000355294.4:p.Ala208Pro
ENST00000392617.7:n.479+24193C>G (RAB37)
ENST00000402449.8:c.72+24193C>G (RAB37) ENSP00000383934.4:n.72+24193C>G
ENST00000462044.5:c.464G>C (CD300LF) ENSP00000464223.1:p.Ser155Thr
ENST00000464910.5:c.600G>C (CD300LF) ENSP00000464257.1:p.Gln200His
ENST00000469092.5:c.487G>C (CD300LF) ENSP00000463743.1:p.Ala163Pro
ENST00000581500.1:c.622G>C (CD300LF) ENSP00000464610.1:p.Ala208Pro
ENST00000583937.5:c.636G>C (CD300LF) ENSP00000462309.1:p.Gln212His
NM_001289082.1:c.487G>C (CD300LF) NP_001276011.1:p.Ala163Pro
NM_001289083.1:c.637G>C (CD300LF) NP_001276012.1:p.Ala213Pro
NM_001289084.1:c.636G>C (CD300LF) NP_001276013.1:p.Gln212His
NM_001289085.1:c.600G>C (CD300LF) NP_001276014.1:p.Gln200His
NM_001289086.1:c.622G>C (CD300LF) NP_001276015.1:p.Ala208Pro
NM_001289087.1:c.568G>C (CD300LF) NP_001276016.1:p.Ala190Pro
NM_139018.4:c.591G>C (CD300LF) NP_620587.2:p.Gln197His
NM_175738.4:c.72+24193C>G (RAB37) NP_783865.1:n.72+24193C>G
NR_110298.1:n.763G>C (CD300LF)
XM_011524369.1:c.723G>C (CD300LF) XP_011522671.1:p.Gln241His
XM_011524370.1:c.714G>C (CD300LF) XP_011522672.1:p.Gln238His
XM_011524371.1:c.714G>C (CD300LF) XP_011522673.1:p.Gln238His
XM_011524372.1:c.678G>C (CD300LF) XP_011522674.1:p.Gln226His
XM_011524373.1:c.669G>C (CD300LF) XP_011522675.1:p.Gln223His
XM_011524374.1:c.669G>C (CD300LF) XP_011522676.1:p.Gln223His
XM_011524375.1:c.645G>C (CD300LF) XP_011522677.1:p.Gln215His
XM_011524376.1:c.700G>C (CD300LF) XP_011522678.1:p.Ala234Pro
XM_011524377.1:c.700G>C (CD300LF) XP_011522679.1:p.Ala234Pro
XM_011524378.1:c.691G>C (CD300LF) XP_011522680.1:p.Ala231Pro
XM_011524379.1:c.655G>C (CD300LF) XP_011522681.1:p.Ala219Pro
XM_017024212.2:c.648G>C (CD300LF) XP_016879701.1:p.Gln216His
XM_017024213.2:c.703G>C (CD300LF) XP_016879702.1:p.Ala235Pro
XM_017024214.2:c.694G>C (CD300LF) XP_016879703.1:p.Ala232Pro
XM_017024215.1:c.646G>C (CD300LF) XP_016879704.1:p.Ala216Pro
XM_017024216.2:c.625G>C (CD300LF) XP_016879705.1:p.Ala209Pro
XM_017024217.2:c.613G>C (CD300LF) XP_016879706.1:p.Ala205Pro
NM_139018.5:c.591G>C (CD300LF) MANE Select NP_620587.2:p.Gln197His
NM_001289082.2:c.487G>C (CD300LF) NP_001276011.1:p.Ala163Pro
NM_001289083.2:c.637G>C (CD300LF) NP_001276012.1:p.Ala213Pro
NM_001289084.2:c.636G>C (CD300LF) NP_001276013.1:p.Gln212His
NM_001289085.2:c.600G>C (CD300LF) NP_001276014.1:p.Gln200His
NM_001289086.2:c.622G>C (CD300LF) NP_001276015.1:p.Ala208Pro
NM_001289087.2:c.568G>C (CD300LF) NP_001276016.1:p.Ala190Pro
NM_175738.5:c.72+24193C>G (RAB37) NP_783865.1:n.72+24193C>G
NR_110298.2:n.686G>C (CD300LF)