Canonical Allele Identifier: CA355181314

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158682159T>C , CM000665.2:g.158682159T>C	GRCh38
NC_000003.11:g.158399948T>C , CM000665.1:g.158399948T>C	GRCh37
NC_000003.10:g.159882642T>C	NCBI36
NG_008441.1:g.42632T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1764+2T>C MANE Select	NP_079272.4:n.1764+2T>C
ENST00000486715.6:c.1764+2T>C MANE Select	ENSP00000419038.1:n.1764+2T>C
NM_001308164.1:c.1821+2T>C	NP_001295093.1:n.1821+2T>C
NM_001308164.2:c.1821+2T>C	NP_001295093.1:n.1821+2T>C
NM_001308166.1:c.1766T>C	NP_001295095.1:p.Val589Ala
NM_001308166.2:c.1766T>C	NP_001295095.1:p.Val589Ala
NM_001374355.1:c.1683+2T>C	NP_001361284.1:n.1683+2T>C
NM_001374356.1:c.1647+2T>C	NP_001361285.1:n.1647+2T>C
NM_001374357.1:c.1539+2T>C	NP_001361286.1:n.1539+2T>C
NM_001374358.1:c.1305+2T>C	NP_001361287.1:n.1305+2T>C
NM_001374359.1:c.1197+2T>C	NP_001361288.1:n.1197+2T>C
NM_001374360.1:c.1197+2T>C	NP_001361289.1:n.1197+2T>C
NM_001374361.1:c.1080+2T>C	NP_001361290.1:n.1080+2T>C
NM_024996.5:c.1764+2T>C	NP_079272.4:n.1764+2T>C
NR_164499.1:n.1787+2T>C
NR_164500.1:n.1872+2T>C
NR_164501.1:n.1417+2T>C
NR_164502.1:n.1751+2T>C
ENST00000264263.9:c.1821+2T>C	ENSP00000264263.5:n.1821+2T>C
ENST00000477721.1:n.170+2T>C
ENST00000478254.5:c.*404+2T>C	ENSP00000417225.1:n.*404+2T>C
ENST00000478576.5:c.1766T>C	ENSP00000418755.1:p.Val589Ala
ENST00000481468.1:n.51+2T>C
ENST00000486715.5:c.1764+2T>C	ENSP00000419038.1:n.1764+2T>C
XM_006713795.1:c.1647+2T>C	XP_006713858.1:n.1647+2T>C
XM_006713795.2:c.1647+2T>C	XP_006713858.1:n.1647+2T>C