Canonical Allele Identifier: CA5349492

Gene: EDF1 RABL6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136862333C>T , CM000671.2:g.136862333C>T	GRCh38
NC_000009.11:g.139756785C>T , CM000671.1:g.139756785C>T	GRCh37
NC_000009.10:g.138876606C>T	NCBI36
NG_029208.1:g.8954G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003792.4:c.398G>A (EDF1) MANE Select	NP_003783.1:p.Arg133Gln
ENST00000224073.6:c.398G>A (EDF1) MANE Select	ENSP00000224073.1:p.Arg133Gln
NM_001281297.1:c.*123G>A (EDF1)	NP_001268226.1:n.*123G>A
NM_001281297.2:c.*123G>A (EDF1)	NP_001268226.1:n.*123G>A
NM_001281298.1:c.335G>A (EDF1)	NP_001268227.1:p.Arg112Gln
NM_001281298.2:c.335G>A (EDF1)	NP_001268227.1:p.Arg112Gln
NM_001281299.1:c.344G>A (EDF1)	NP_001268228.1:p.Arg115Gln
NM_001281299.2:c.344G>A (EDF1)	NP_001268228.1:p.Arg115Gln
NM_003792.3:c.398G>A (EDF1)	NP_003783.1:p.Arg133Gln
ENST00000224073.5:c.398G>A (EDF1)	ENSP00000224073.1:p.Arg133Gln
ENST00000371649.5:c.*123G>A (EDF1)	ENSP00000360712.1:n.*123G>A
ENST00000432842.6:c.*1037+25330C>T (RABL6)	ENSP00000414081.3:n.*1037+25330C>T