Canonical Allele Identifier: CA9940341

Gene: LAMA5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62312525G>A , CM000682.2:g.62312525G>A	GRCh38
NC_000020.10:g.60887581G>A , CM000682.1:g.60887581G>A	GRCh37
NC_000020.9:g.60320976G>A	NCBI36
NG_050626.1:g.59796C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252999.7:c.9235C>T MANE Select	ENSP00000252999.3:p.Arg3079Trp
ENST00000370691.6:n.1184C>T
ENST00000491036.2:n.338C>T
NM_005560.4:c.9235C>T	NP_005551.3:p.Arg3079Trp
XM_006723796.2:c.9235C>T	XP_006723859.1:p.Arg3079Trp
XM_011528818.1:c.9097C>T	XP_011527120.1:p.Arg3033Trp
XM_011528819.1:c.8962C>T	XP_011527121.1:p.Arg2988Trp
XR_936532.1:n.9307C>T
XM_006723796.3:c.9235C>T	XP_006723859.1:p.Arg3079Trp
XM_011528818.2:c.9097C>T	XP_011527120.1:p.Arg3033Trp
XM_011528819.2:c.8962C>T	XP_011527121.1:p.Arg2988Trp
XR_936532.2:n.9306C>T
NM_005560.5:c.9235C>T	NP_005551.3:p.Arg3079Trp
NM_005560.6:c.9235C>T MANE Select	NP_005551.3:p.Arg3079Trp