Canonical Allele Identifier: CA400935113
Gene: CD300LF HGNC NCBI
RAB37 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74695809C>A , CM000679.2:g.74695809C>A GRCh38
NC_000017.10:g.72691948C>A , CM000679.1:g.72691948C>A GRCh37
NC_000017.9:g.70203543C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326165.11:c.633G>T (CD300LF) MANE Select ENSP00000327075.6:p.Gln211His
ENST00000301573.13:c.679G>T (CD300LF) ENSP00000301573.9:p.Ala227Ser
ENST00000326165.10:c.633G>T (CD300LF) ENSP00000327075.6:p.Gln211His
ENST00000340415.7:c.72+24151C>A (RAB37) ENSP00000341354.3:n.72+24151C>A
ENST00000343125.8:c.529G>T (CD300LF) ENSP00000343751.4:p.Ala177Ser
ENST00000361254.8:c.664G>T (CD300LF) ENSP00000355294.4:p.Ala222Ser
ENST00000392617.7:n.479+24151C>A (RAB37)
ENST00000402449.8:c.72+24151C>A (RAB37) ENSP00000383934.4:n.72+24151C>A
ENST00000462044.5:c.*8G>T (CD300LF) ENSP00000464223.1:n.*8G>T
ENST00000464910.5:c.642G>T (CD300LF) ENSP00000464257.1:p.Gln214His
ENST00000469092.5:c.529G>T (CD300LF) ENSP00000463743.1:p.Ala177Ser
ENST00000581500.1:c.664G>T (CD300LF) ENSP00000464610.1:p.Ala222Ser
ENST00000583937.5:c.678G>T (CD300LF) ENSP00000462309.1:p.Gln226His
NM_001289082.1:c.529G>T (CD300LF) NP_001276011.1:p.Ala177Ser
NM_001289083.1:c.679G>T (CD300LF) NP_001276012.1:p.Ala227Ser
NM_001289084.1:c.678G>T (CD300LF) NP_001276013.1:p.Gln226His
NM_001289085.1:c.642G>T (CD300LF) NP_001276014.1:p.Gln214His
NM_001289086.1:c.664G>T (CD300LF) NP_001276015.1:p.Ala222Ser
NM_001289087.1:c.610G>T (CD300LF) NP_001276016.1:p.Ala204Ser
NM_139018.4:c.633G>T (CD300LF) NP_620587.2:p.Gln211His
NM_175738.4:c.72+24151C>A (RAB37) NP_783865.1:n.72+24151C>A
NR_110298.1:n.805G>T (CD300LF)
XM_011524369.1:c.765G>T (CD300LF) XP_011522671.1:p.Gln255His
XM_011524370.1:c.756G>T (CD300LF) XP_011522672.1:p.Gln252His
XM_011524371.1:c.756G>T (CD300LF) XP_011522673.1:p.Gln252His
XM_011524372.1:c.720G>T (CD300LF) XP_011522674.1:p.Gln240His
XM_011524373.1:c.711G>T (CD300LF) XP_011522675.1:p.Gln237His
XM_011524374.1:c.711G>T (CD300LF) XP_011522676.1:p.Gln237His
XM_011524375.1:c.687G>T (CD300LF) XP_011522677.1:p.Gln229His
XM_011524376.1:c.742G>T (CD300LF) XP_011522678.1:p.Ala248Ser
XM_011524377.1:c.742G>T (CD300LF) XP_011522679.1:p.Ala248Ser
XM_011524378.1:c.733G>T (CD300LF) XP_011522680.1:p.Ala245Ser
XM_011524379.1:c.697G>T (CD300LF) XP_011522681.1:p.Ala233Ser
XM_017024212.2:c.690G>T (CD300LF) XP_016879701.1:p.Gln230His
XM_017024213.2:c.745G>T (CD300LF) XP_016879702.1:p.Ala249Ser
XM_017024214.2:c.736G>T (CD300LF) XP_016879703.1:p.Ala246Ser
XM_017024215.1:c.688G>T (CD300LF) XP_016879704.1:p.Ala230Ser
XM_017024216.2:c.667G>T (CD300LF) XP_016879705.1:p.Ala223Ser
XM_017024217.2:c.655G>T (CD300LF) XP_016879706.1:p.Ala219Ser
NM_139018.5:c.633G>T (CD300LF) MANE Select NP_620587.2:p.Gln211His
NM_001289082.2:c.529G>T (CD300LF) NP_001276011.1:p.Ala177Ser
NM_001289083.2:c.679G>T (CD300LF) NP_001276012.1:p.Ala227Ser
NM_001289084.2:c.678G>T (CD300LF) NP_001276013.1:p.Gln226His
NM_001289085.2:c.642G>T (CD300LF) NP_001276014.1:p.Gln214His
NM_001289086.2:c.664G>T (CD300LF) NP_001276015.1:p.Ala222Ser
NM_001289087.2:c.610G>T (CD300LF) NP_001276016.1:p.Ala204Ser
NM_175738.5:c.72+24151C>A (RAB37) NP_783865.1:n.72+24151C>A
NR_110298.2:n.728G>T (CD300LF)