Canonical Allele Identifier: CA4520932

Gene: MGAM

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142034804C>G , CM000669.2:g.142034804C>G	GRCh38
NC_000007.13:g.141734604C>G , CM000669.1:g.141734604C>G	GRCh37
NC_000007.12:g.141381073C>G	NCBI36
NG_033954.1:g.43926C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001365693.1:c.1922C>G MANE Select	NP_001352622.1:p.Pro641Arg
ENST00000475668.6:c.1922C>G MANE Select	ENSP00000417515.2:p.Pro641Arg
NM_004668.2:c.1922C>G	NP_004659.2:p.Pro641Arg
NM_004668.3:c.1922C>G	NP_004659.2:p.Pro641Arg
ENST00000549489.6:c.1922C>G	ENSP00000447378.2:p.Pro641Arg
ENST00000620571.1:c.1922C>G	ENSP00000482292.1:p.Pro641Arg
XM_006716168.2:c.1922C>G	XP_006716231.1:p.Pro641Arg
XM_011516670.1:c.1922C>G	XP_011514972.1:p.Pro641Arg
XM_011516670.2:c.1922C>G	XP_011514972.1:p.Pro641Arg
XM_011516671.1:c.1922C>G	XP_011514973.1:p.Pro641Arg
XM_011516671.2:c.1922C>G	XP_011514973.1:p.Pro641Arg
XM_011516672.1:c.1922C>G	XP_011514974.1:p.Pro641Arg
XM_011516672.2:c.1922C>G	XP_011514974.1:p.Pro641Arg
XM_011516673.1:c.1922C>G	XP_011514975.1:p.Pro641Arg
XM_011516673.2:c.1922C>G	XP_011514975.1:p.Pro641Arg
XM_011516674.1:c.1922C>G	XP_011514976.1:p.Pro641Arg
XM_011516674.2:c.1922C>G	XP_011514976.1:p.Pro641Arg
XM_017012772.1:c.1922C>G	XP_016868261.1:p.Pro641Arg
XM_024446990.1:c.1922C>G	XP_024302758.1:p.Pro641Arg
XR_927545.1:n.2034C>G