Canonical Allele Identifier: CA402053439

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23907863A>G , CM000680.2:g.23907863A>G	GRCh38
NC_000018.9:g.21487827A>G , CM000680.1:g.21487827A>G	GRCh37
NC_000018.8:g.19741825A>G	NCBI36
NG_007853.2:g.223266A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2116A>G MANE Plus Clinical	ENSP00000269217.5:p.Arg706Gly
ENST00000313654.14:c.6943A>G MANE Select	ENSP00000324532.8:p.Arg2315Gly
ENST00000649721.1:c.3611-1290A>G	ENSP00000497885.1:n.3611-1290A>G
ENST00000269217.10:c.2116A>G	ENSP00000269217.5:p.Arg706Gly
ENST00000313654.13:c.6943A>G	ENSP00000324532.8:p.Arg2315Gly
ENST00000399516.7:c.6775A>G	ENSP00000382432.2:p.Arg2259Gly
ENST00000586751.5:c.1721A>G
ENST00000587184.5:c.1948A>G	ENSP00000466557.1:p.Arg650Gly
ENST00000588770.5:n.1521A>G
NM_000227.4:c.2116A>G	NP_000218.3:p.Arg706Gly
NM_001127717.2:c.6775A>G	NP_001121189.2:p.Arg2259Gly
NM_001127718.2:c.1948A>G	NP_001121190.2:p.Arg650Gly
NM_198129.2:c.6943A>G	NP_937762.2:p.Arg2315Gly
XM_011525978.1:c.6970A>G	XP_011524280.1:p.Arg2324Gly
XM_011525979.1:c.6961A>G	XP_011524281.1:p.Arg2321Gly
XM_011525980.1:c.6952A>G	XP_011524282.1:p.Arg2318Gly
XM_011525981.1:c.6838A>G	XP_011524283.1:p.Arg2280Gly
XM_011525982.1:c.6746-1290A>G	XP_011524284.1:n.6746-1290A>G
XM_011525978.2:c.6970A>G	XP_011524280.1:p.Arg2324Gly
XM_011525979.2:c.6961A>G	XP_011524281.1:p.Arg2321Gly
XM_011525980.2:c.6952A>G	XP_011524282.1:p.Arg2318Gly
XM_011525981.2:c.6838A>G	XP_011524283.1:p.Arg2280Gly
XM_011525982.2:c.6746-1290A>G	XP_011524284.1:n.6746-1290A>G
XM_017025743.1:c.4822A>G	XP_016881232.1:p.Arg1608Gly
XM_017025744.1:c.2512A>G	XP_016881233.1:p.Arg838Gly
XR_001753199.1:n.7211A>G
NM_000227.5:c.2116A>G	NP_000218.3:p.Arg706Gly
NM_001127717.3:c.6775A>G	NP_001121189.2:p.Arg2259Gly
NM_001127718.3:c.1948A>G	NP_001121190.2:p.Arg650Gly
NM_198129.3:c.6943A>G	NP_937762.2:p.Arg2315Gly
NM_000227.6:c.2116A>G MANE Plus Clinical	NP_000218.3:p.Arg706Gly
NM_001127717.4:c.6775A>G	NP_001121189.2:p.Arg2259Gly
NM_001127718.4:c.1948A>G	NP_001121190.2:p.Arg650Gly
NM_198129.4:c.6943A>G MANE Select	NP_937762.2:p.Arg2315Gly