Canonical Allele Identifier: CA391819605

Gene: MGA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41729239G>C , CM000677.2:g.41729239G>C	GRCh38
NC_000015.9:g.42021437G>C , CM000677.1:g.42021437G>C	GRCh37
NC_000015.8:g.39808729G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001400225.1:c.3733G>C MANE Select	NP_001387154.1:p.Glu1245Gln
ENST00000703841.1:c.3733G>C MANE Select	ENSP00000515495.1:p.Glu1245Gln
NM_001080541.2:c.3733G>C	NP_001074010.2:p.Glu1245Gln
NM_001080541.3:c.3733G>C	NP_001074010.2:p.Glu1245Gln
NM_001164273.1:c.3733G>C	NP_001157745.1:p.Glu1245Gln
NM_001164273.2:c.3733G>C	NP_001157745.1:p.Glu1245Gln
NM_001400242.1:c.3733G>C	NP_001387171.1:p.Glu1245Gln
ENST00000219905.11:c.3733G>C	ENSP00000219905.7:p.Glu1245Gln
ENST00000219905.13:c.3733G>C	ENSP00000219905.7:p.Glu1245Gln
ENST00000545763.5:c.3733G>C	ENSP00000442467.1:p.Glu1245Gln
ENST00000545763.6:c.2362G>C	ENSP00000442467.2:p.Glu788Gln
ENST00000566586.5:c.3733G>C	ENSP00000456141.1:p.Glu1245Gln
ENST00000566586.6:c.3733G>C	ENSP00000456141.1:p.Glu1245Gln
ENST00000570161.5:c.3733G>C	ENSP00000457035.1:p.Glu1245Gln
ENST00000570161.6:c.3733G>C	ENSP00000457035.2:p.Glu1245Gln
XM_005254243.1:c.3733G>C	XP_005254300.1:p.Glu1245Gln
XM_005254243.3:c.3733G>C	XP_005254300.1:p.Glu1245Gln
XM_005254244.2:c.3733G>C	XP_005254301.1:p.Glu1245Gln
XM_005254244.4:c.3733G>C	XP_005254301.1:p.Glu1245Gln
XM_005254245.3:c.3733G>C	XP_005254302.1:p.Glu1245Gln
XM_005254245.5:c.3733G>C	XP_005254302.1:p.Glu1245Gln
XM_005254246.1:c.3733G>C	XP_005254303.1:p.Glu1245Gln
XM_005254246.3:c.3733G>C	XP_005254303.1:p.Glu1245Gln
XM_005254247.1:c.3733G>C	XP_005254304.1:p.Glu1245Gln
XM_005254247.3:c.3733G>C	XP_005254304.1:p.Glu1245Gln
XM_005254248.1:c.3733G>C	XP_005254305.1:p.Glu1245Gln
XM_005254248.3:c.3733G>C	XP_005254305.1:p.Glu1245Gln
XM_005254249.1:c.3733G>C	XP_005254306.1:p.Glu1245Gln
XM_005254249.3:c.3733G>C	XP_005254306.1:p.Glu1245Gln
XM_005254252.1:c.3733G>C	XP_005254309.1:p.Glu1245Gln
XM_005254252.3:c.3733G>C	XP_005254309.1:p.Glu1245Gln
XM_005254253.1:c.3733G>C	XP_005254310.1:p.Glu1245Gln
XM_005254253.3:c.3733G>C	XP_005254310.1:p.Glu1245Gln
XM_006720443.2:c.3733G>C	XP_006720506.1:p.Glu1245Gln
XM_006720443.4:c.3733G>C	XP_006720506.1:p.Glu1245Gln
XM_006720444.2:c.2677G>C	XP_006720507.1:p.Glu893Gln
XM_006720445.2:c.2362G>C	XP_006720508.1:p.Glu788Gln
XM_006720445.4:c.2362G>C	XP_006720508.1:p.Glu788Gln
XM_011521397.1:c.3733G>C	XP_011519699.1:p.Glu1245Gln
XM_011521397.3:c.3733G>C	XP_011519699.1:p.Glu1245Gln
XM_011521398.1:c.3733G>C	XP_011519700.1:p.Glu1245Gln
XM_011521398.3:c.3733G>C	XP_011519700.1:p.Glu1245Gln
XM_011521401.1:c.3733G>C	XP_011519703.1:p.Glu1245Gln
XM_017022028.2:c.2362G>C	XP_016877517.1:p.Glu788Gln
XM_017022029.2:c.2362G>C	XP_016877518.1:p.Glu788Gln
XM_017022030.2:c.3733G>C	XP_016877519.1:p.Glu1245Gln
XM_017022031.2:c.-440G>C	XP_016877520.1:n.-440G>C
XR_001751172.2:n.3910G>C
XR_002957629.1:n.3910G>C
XR_002957630.1:n.3910G>C