Canonical Allele Identifier: CA15236985

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158654713T>C , CM000665.2:g.158654713T>C	GRCh38
NC_000003.11:g.158372502T>C , CM000665.1:g.158372502T>C	GRCh37
NC_000003.10:g.159855196T>C	NCBI36
NG_008441.1:g.15186T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.1083+82T>C (GFM1) MANE Select	ENSP00000419038.1:n.1083+82T>C
ENST00000264263.9:c.1140+82T>C (GFM1)	ENSP00000264263.5:n.1140+82T>C
ENST00000312756.4:n.292+82T>C (GFM1)
ENST00000478254.5:c.1083+82T>C (GFM1)	ENSP00000417225.1:n.1083+82T>C
ENST00000478576.5:c.1083+82T>C (GFM1)	ENSP00000418755.1:n.1083+82T>C
ENST00000482640.5:c.362-8504A>G (LXN)
ENST00000486715.5:c.1083+82T>C (GFM1)	ENSP00000419038.1:n.1083+82T>C
NM_001308164.1:c.1140+82T>C (GFM1)	NP_001295093.1:n.1140+82T>C
NM_001308166.1:c.1083+82T>C (GFM1)	NP_001295095.1:n.1083+82T>C
NM_024996.5:c.1083+82T>C (GFM1)	NP_079272.4:n.1083+82T>C
XM_006713795.1:c.966+82T>C (GFM1)	XP_006713858.1:n.966+82T>C
XM_006713795.2:c.966+82T>C (GFM1)	XP_006713858.1:n.966+82T>C
NM_001374355.1:c.1140+82T>C (GFM1)	NP_001361284.1:n.1140+82T>C
NM_001374356.1:c.966+82T>C (GFM1)	NP_001361285.1:n.966+82T>C
NM_001374357.1:c.858+82T>C (GFM1)	NP_001361286.1:n.858+82T>C
NM_001374358.1:c.624+82T>C (GFM1)	NP_001361287.1:n.624+82T>C
NM_001374359.1:c.516+82T>C (GFM1)	NP_001361288.1:n.516+82T>C
NM_001374360.1:c.516+82T>C (GFM1)	NP_001361289.1:n.516+82T>C
NM_001374361.1:c.399+82T>C (GFM1)	NP_001361290.1:n.399+82T>C
NM_024996.7:c.1083+82T>C (GFM1) MANE Select	NP_079272.4:n.1083+82T>C
NR_164499.1:n.1106+1246T>C (GFM1)
NR_164500.1:n.1191+82T>C (GFM1)
NR_164501.1:n.736+82T>C (GFM1)
NR_164502.1:n.1070+82T>C (GFM1)
NM_001308164.2:c.1140+82T>C (GFM1)	NP_001295093.1:n.1140+82T>C
NM_001308166.2:c.1083+82T>C (GFM1)	NP_001295095.1:n.1083+82T>C