Canonical Allele Identifier: CA400935015
Gene: CD300LF HGNC NCBI
RAB37 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74695771A>T , CM000679.2:g.74695771A>T GRCh38
NC_000017.10:g.72691910A>T , CM000679.1:g.72691910A>T GRCh37
NC_000017.9:g.70203505A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326165.11:c.671T>A (CD300LF) MANE Select ENSP00000327075.6:p.Leu224His
ENST00000301573.13:c.717T>A (CD300LF) ENSP00000301573.9:p.Ala239=
ENST00000326165.10:c.671T>A (CD300LF) ENSP00000327075.6:p.Leu224His
ENST00000340415.7:c.72+24113A>T (RAB37) ENSP00000341354.3:n.72+24113A>T
ENST00000343125.8:c.567T>A (CD300LF) ENSP00000343751.4:p.Ala189=
ENST00000361254.8:c.702T>A (CD300LF) ENSP00000355294.4:p.Ala234=
ENST00000392617.7:n.479+24113A>T (RAB37)
ENST00000402449.8:c.72+24113A>T (RAB37) ENSP00000383934.4:n.72+24113A>T
ENST00000462044.5:c.*46T>A (CD300LF) ENSP00000464223.1:n.*46T>A
ENST00000464910.5:c.680T>A (CD300LF) ENSP00000464257.1:p.Leu227His
ENST00000469092.5:c.567T>A (CD300LF) ENSP00000463743.1:p.Ala189=
ENST00000581500.1:c.702T>A (CD300LF) ENSP00000464610.1:p.Ala234=
ENST00000583937.5:c.716T>A (CD300LF) ENSP00000462309.1:p.Leu239His
NM_001289082.1:c.567T>A (CD300LF) NP_001276011.1:p.Ala189=
NM_001289083.1:c.717T>A (CD300LF) NP_001276012.1:p.Ala239=
NM_001289084.1:c.716T>A (CD300LF) NP_001276013.1:p.Leu239His
NM_001289085.1:c.680T>A (CD300LF) NP_001276014.1:p.Leu227His
NM_001289086.1:c.702T>A (CD300LF) NP_001276015.1:p.Ala234=
NM_001289087.1:c.648T>A (CD300LF) NP_001276016.1:p.Ala216=
NM_139018.4:c.671T>A (CD300LF) NP_620587.2:p.Leu224His
NM_175738.4:c.72+24113A>T (RAB37) NP_783865.1:n.72+24113A>T
NR_110298.1:n.843T>A (CD300LF)
XM_011524369.1:c.803T>A (CD300LF) XP_011522671.1:p.Leu268His
XM_011524370.1:c.794T>A (CD300LF) XP_011522672.1:p.Leu265His
XM_011524371.1:c.794T>A (CD300LF) XP_011522673.1:p.Leu265His
XM_011524372.1:c.758T>A (CD300LF) XP_011522674.1:p.Leu253His
XM_011524373.1:c.749T>A (CD300LF) XP_011522675.1:p.Leu250His
XM_011524374.1:c.749T>A (CD300LF) XP_011522676.1:p.Leu250His
XM_011524375.1:c.725T>A (CD300LF) XP_011522677.1:p.Leu242His
XM_011524376.1:c.780T>A (CD300LF) XP_011522678.1:p.Ala260=
XM_011524377.1:c.780T>A (CD300LF) XP_011522679.1:p.Ala260=
XM_011524378.1:c.771T>A (CD300LF) XP_011522680.1:p.Ala257=
XM_011524379.1:c.735T>A (CD300LF) XP_011522681.1:p.Ala245=
XM_017024212.2:c.728T>A (CD300LF) XP_016879701.1:p.Leu243His
XM_017024213.2:c.783T>A (CD300LF) XP_016879702.1:p.Ala261=
XM_017024214.2:c.774T>A (CD300LF) XP_016879703.1:p.Ala258=
XM_017024215.1:c.726T>A (CD300LF) XP_016879704.1:p.Ala242=
XM_017024216.2:c.705T>A (CD300LF) XP_016879705.1:p.Ala235=
XM_017024217.2:c.693T>A (CD300LF) XP_016879706.1:p.Ala231=
NM_139018.5:c.671T>A (CD300LF) MANE Select NP_620587.2:p.Leu224His
NM_001289082.2:c.567T>A (CD300LF) NP_001276011.1:p.Ala189=
NM_001289083.2:c.717T>A (CD300LF) NP_001276012.1:p.Ala239=
NM_001289084.2:c.716T>A (CD300LF) NP_001276013.1:p.Leu239His
NM_001289085.2:c.680T>A (CD300LF) NP_001276014.1:p.Leu227His
NM_001289086.2:c.702T>A (CD300LF) NP_001276015.1:p.Ala234=
NM_001289087.2:c.648T>A (CD300LF) NP_001276016.1:p.Ala216=
NM_175738.5:c.72+24113A>T (RAB37) NP_783865.1:n.72+24113A>T
NR_110298.2:n.766T>A (CD300LF)