Canonical Allele Identifier: CA402048726

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21483005T>G (hg19) ; chr18:g.23903041T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903041T>G , CM000680.2:g.23903041T>G	GRCh38
NC_000018.9:g.21483005T>G , CM000680.1:g.21483005T>G	GRCh37
NC_000018.8:g.19737003T>G	NCBI36
NG_007853.2:g.218444T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1407T>G MANE Plus Clinical	ENSP00000269217.5:p.Ser469Arg
ENST00000313654.14:c.6234T>G MANE Select	ENSP00000324532.8:p.Ser2078Arg
ENST00000649721.1:c.3126T>G	ENSP00000497885.1:p.Ser1042Arg
ENST00000269217.10:c.1407T>G	ENSP00000269217.5:p.Ser469Arg
ENST00000313654.13:c.6234T>G	ENSP00000324532.8:p.Ser2078Arg
ENST00000399516.7:c.6066T>G	ENSP00000382432.2:p.Ser2022Arg
ENST00000586751.5:c.1012T>G
ENST00000587184.5:c.1239T>G	ENSP00000466557.1:p.Ser413Arg
ENST00000588770.5:n.812T>G
NM_000227.4:c.1407T>G	NP_000218.3:p.Ser469Arg
NM_001127717.2:c.6066T>G	NP_001121189.2:p.Ser2022Arg
NM_001127718.2:c.1239T>G	NP_001121190.2:p.Ser413Arg
NM_198129.2:c.6234T>G	NP_937762.2:p.Ser2078Arg
XM_011525978.1:c.6261T>G	XP_011524280.1:p.Ser2087Arg
XM_011525979.1:c.6252T>G	XP_011524281.1:p.Ser2084Arg
XM_011525980.1:c.6243T>G	XP_011524282.1:p.Ser2081Arg
XM_011525981.1:c.6129T>G	XP_011524283.1:p.Ser2043Arg
XM_011525982.1:c.6261T>G	XP_011524284.1:p.Ser2087Arg
XM_011525978.2:c.6261T>G	XP_011524280.1:p.Ser2087Arg
XM_011525979.2:c.6252T>G	XP_011524281.1:p.Ser2084Arg
XM_011525980.2:c.6243T>G	XP_011524282.1:p.Ser2081Arg
XM_011525981.2:c.6129T>G	XP_011524283.1:p.Ser2043Arg
XM_011525982.2:c.6261T>G	XP_011524284.1:p.Ser2087Arg
XM_017025743.1:c.4113T>G	XP_016881232.1:p.Ser1371Arg
XM_017025744.1:c.1803T>G	XP_016881233.1:p.Ser601Arg
XR_001753199.1:n.6502T>G
NM_000227.5:c.1407T>G	NP_000218.3:p.Ser469Arg
NM_001127717.3:c.6066T>G	NP_001121189.2:p.Ser2022Arg
NM_001127718.3:c.1239T>G	NP_001121190.2:p.Ser413Arg
NM_198129.3:c.6234T>G	NP_937762.2:p.Ser2078Arg
NM_000227.6:c.1407T>G MANE Plus Clinical	NP_000218.3:p.Ser469Arg
NM_001127717.4:c.6066T>G	NP_001121189.2:p.Ser2022Arg
NM_001127718.4:c.1239T>G	NP_001121190.2:p.Ser413Arg
NM_198129.4:c.6234T>G MANE Select	NP_937762.2:p.Ser2078Arg