Canonical Allele Identifier: CA402048776

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23903052-A-G
• MyVariant Identifiers: chr18:g.21483016A>G (hg19) ; chr18:g.23903052A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903052A>G , CM000680.2:g.23903052A>G	GRCh38
NC_000018.9:g.21483016A>G , CM000680.1:g.21483016A>G	GRCh37
NC_000018.8:g.19737014A>G	NCBI36
NG_007853.2:g.218455A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1418A>G MANE Plus Clinical	ENSP00000269217.5:p.Lys473Arg
ENST00000313654.14:c.6245A>G MANE Select	ENSP00000324532.8:p.Lys2082Arg
ENST00000649721.1:c.3137A>G	ENSP00000497885.1:p.Lys1046Arg
ENST00000269217.10:c.1418A>G	ENSP00000269217.5:p.Lys473Arg
ENST00000313654.13:c.6245A>G	ENSP00000324532.8:p.Lys2082Arg
ENST00000399516.7:c.6077A>G	ENSP00000382432.2:p.Lys2026Arg
ENST00000586751.5:c.1023A>G
ENST00000587184.5:c.1250A>G	ENSP00000466557.1:p.Lys417Arg
ENST00000588770.5:n.823A>G
NM_000227.4:c.1418A>G	NP_000218.3:p.Lys473Arg
NM_001127717.2:c.6077A>G	NP_001121189.2:p.Lys2026Arg
NM_001127718.2:c.1250A>G	NP_001121190.2:p.Lys417Arg
NM_198129.2:c.6245A>G	NP_937762.2:p.Lys2082Arg
XM_011525978.1:c.6272A>G	XP_011524280.1:p.Lys2091Arg
XM_011525979.1:c.6263A>G	XP_011524281.1:p.Lys2088Arg
XM_011525980.1:c.6254A>G	XP_011524282.1:p.Lys2085Arg
XM_011525981.1:c.6140A>G	XP_011524283.1:p.Lys2047Arg
XM_011525982.1:c.6272A>G	XP_011524284.1:p.Lys2091Arg
XM_011525978.2:c.6272A>G	XP_011524280.1:p.Lys2091Arg
XM_011525979.2:c.6263A>G	XP_011524281.1:p.Lys2088Arg
XM_011525980.2:c.6254A>G	XP_011524282.1:p.Lys2085Arg
XM_011525981.2:c.6140A>G	XP_011524283.1:p.Lys2047Arg
XM_011525982.2:c.6272A>G	XP_011524284.1:p.Lys2091Arg
XM_017025743.1:c.4124A>G	XP_016881232.1:p.Lys1375Arg
XM_017025744.1:c.1814A>G	XP_016881233.1:p.Lys605Arg
XR_001753199.1:n.6513A>G
NM_000227.5:c.1418A>G	NP_000218.3:p.Lys473Arg
NM_001127717.3:c.6077A>G	NP_001121189.2:p.Lys2026Arg
NM_001127718.3:c.1250A>G	NP_001121190.2:p.Lys417Arg
NM_198129.3:c.6245A>G	NP_937762.2:p.Lys2082Arg
NM_000227.6:c.1418A>G MANE Plus Clinical	NP_000218.3:p.Lys473Arg
NM_001127717.4:c.6077A>G	NP_001121189.2:p.Lys2026Arg
NM_001127718.4:c.1250A>G	NP_001121190.2:p.Lys417Arg
NM_198129.4:c.6245A>G MANE Select	NP_937762.2:p.Lys2082Arg