Canonical Allele Identifier: CA8917105

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23943926G>A , CM000680.2:g.23943926G>A	GRCh38
NC_000018.9:g.21523890G>A , CM000680.1:g.21523890G>A	GRCh37
NC_000018.8:g.19777888G>A	NCBI36
NG_007853.2:g.259329G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198129.4:c.9165G>A MANE Select	NP_937762.2:p.Leu3055=
ENST00000313654.14:c.9165G>A MANE Select	ENSP00000324532.8:p.Leu3055=
NM_000227.6:c.4338G>A MANE Plus Clinical	NP_000218.3:p.Leu1446=
ENST00000269217.11:c.4338G>A MANE Plus Clinical	ENSP00000269217.5:p.Leu1446=
NM_000227.4:c.4338G>A	NP_000218.3:p.Leu1446=
NM_000227.5:c.4338G>A	NP_000218.3:p.Leu1446=
NM_001127717.2:c.8997G>A	NP_001121189.2:p.Leu2999=
NM_001127717.3:c.8997G>A	NP_001121189.2:p.Leu2999=
NM_001127717.4:c.8997G>A	NP_001121189.2:p.Leu2999=
NM_001127718.2:c.4170G>A	NP_001121190.2:p.Leu1390=
NM_001127718.3:c.4170G>A	NP_001121190.2:p.Leu1390=
NM_001127718.4:c.4170G>A	NP_001121190.2:p.Leu1390=
NM_198129.2:c.9165G>A	NP_937762.2:p.Leu3055=
NM_198129.3:c.9165G>A	NP_937762.2:p.Leu3055=
ENST00000269217.10:c.4338G>A	ENSP00000269217.5:p.Leu1446=
ENST00000313654.13:c.9165G>A	ENSP00000324532.8:p.Leu3055=
ENST00000399516.7:c.8997G>A	ENSP00000382432.2:p.Leu2999=
ENST00000587184.5:c.4170G>A	ENSP00000466557.1:p.Leu1390=
ENST00000588770.5:n.3743G>A
ENST00000649721.1:c.5760G>A	ENSP00000497885.1:p.Leu1920=
XM_011525978.1:c.9192G>A	XP_011524280.1:p.Leu3064=
XM_011525978.2:c.9192G>A	XP_011524280.1:p.Leu3064=
XM_011525979.1:c.9183G>A	XP_011524281.1:p.Leu3061=
XM_011525979.2:c.9183G>A	XP_011524281.1:p.Leu3061=
XM_011525980.1:c.9174G>A	XP_011524282.1:p.Leu3058=
XM_011525980.2:c.9174G>A	XP_011524282.1:p.Leu3058=
XM_011525981.1:c.9060G>A	XP_011524283.1:p.Leu3020=
XM_011525981.2:c.9060G>A	XP_011524283.1:p.Leu3020=
XM_011525982.1:c.8895G>A	XP_011524284.1:p.Leu2965=
XM_011525982.2:c.8895G>A	XP_011524284.1:p.Leu2965=
XM_017025743.1:c.7044G>A	XP_016881232.1:p.Leu2348=
XM_017025744.1:c.4734G>A	XP_016881233.1:p.Leu1578=
XR_001753199.1:n.9433G>A