Canonical Allele Identifier: CA9942734

Gene: LAMA5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62329805C>T , CM000682.2:g.62329805C>T	GRCh38
NC_000020.10:g.60904861C>T , CM000682.1:g.60904861C>T	GRCh37
NC_000020.9:g.60338256C>T	NCBI36
NG_050626.1:g.42516G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005560.6:c.4091G>A MANE Select	NP_005551.3:p.Arg1364His
ENST00000252999.7:c.4091G>A MANE Select	ENSP00000252999.3:p.Arg1364His
NM_005560.4:c.4091G>A	NP_005551.3:p.Arg1364His
NM_005560.5:c.4091G>A	NP_005551.3:p.Arg1364His
XM_006723796.2:c.4091G>A	XP_006723859.1:p.Arg1364His
XM_006723796.3:c.4091G>A	XP_006723859.1:p.Arg1364His
XM_006723798.2:c.4091G>A	XP_006723861.1:p.Arg1364His
XM_006723798.3:c.4091G>A	XP_006723861.1:p.Arg1364His
XM_011528818.1:c.3953G>A	XP_011527120.1:p.Arg1318His
XM_011528818.2:c.3953G>A	XP_011527120.1:p.Arg1318His
XM_011528819.1:c.3818G>A	XP_011527121.1:p.Arg1273His
XM_011528819.2:c.3818G>A	XP_011527121.1:p.Arg1273His
XR_936532.1:n.4163G>A
XR_936532.2:n.4162G>A