Canonical Allele Identifier: CA402046482

Gene: LAMA3

Linked Data

• dbSNP Id: rs1280977365
• gnomAD v3: 18-23898822-C-A
• gnomAD v4: 18-23898822-C-A
• MyVariant Identifiers: chr18:g.21478786C>A (hg19) ; chr18:g.23898822C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23898822C>A , CM000680.2:g.23898822C>A	GRCh38
NC_000018.9:g.21478786C>A , CM000680.1:g.21478786C>A	GRCh37
NC_000018.8:g.19732784C>A	NCBI36
NG_007853.2:g.214225C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.871C>A MANE Plus Clinical	ENSP00000269217.5:p.Gln291Lys
ENST00000313654.14:c.5698C>A MANE Select	ENSP00000324532.8:p.Gln1900Lys
ENST00000649721.1:c.2590C>A	ENSP00000497885.1:p.Gln864Lys
ENST00000269217.10:c.871C>A	ENSP00000269217.5:p.Gln291Lys
ENST00000313654.13:c.5698C>A	ENSP00000324532.8:p.Gln1900Lys
ENST00000399516.7:c.5698C>A	ENSP00000382432.2:p.Gln1900Lys
ENST00000586709.1:n.86C>A
ENST00000586751.5:c.476C>A
ENST00000587184.5:c.871C>A	ENSP00000466557.1:p.Gln291Lys
ENST00000588770.5:n.276C>A
NM_000227.4:c.871C>A	NP_000218.3:p.Gln291Lys
NM_001127717.2:c.5698C>A	NP_001121189.2:p.Gln1900Lys
NM_001127718.2:c.871C>A	NP_001121190.2:p.Gln291Lys
NM_198129.2:c.5698C>A	NP_937762.2:p.Gln1900Lys
XM_011525978.1:c.5725C>A	XP_011524280.1:p.Gln1909Lys
XM_011525979.1:c.5716C>A	XP_011524281.1:p.Gln1906Lys
XM_011525980.1:c.5707C>A	XP_011524282.1:p.Gln1903Lys
XM_011525981.1:c.5593C>A	XP_011524283.1:p.Gln1865Lys
XM_011525982.1:c.5725C>A	XP_011524284.1:p.Gln1909Lys
XM_011525978.2:c.5725C>A	XP_011524280.1:p.Gln1909Lys
XM_011525979.2:c.5716C>A	XP_011524281.1:p.Gln1906Lys
XM_011525980.2:c.5707C>A	XP_011524282.1:p.Gln1903Lys
XM_011525981.2:c.5593C>A	XP_011524283.1:p.Gln1865Lys
XM_011525982.2:c.5725C>A	XP_011524284.1:p.Gln1909Lys
XM_017025743.1:c.3577C>A	XP_016881232.1:p.Gln1193Lys
XM_017025744.1:c.1267C>A	XP_016881233.1:p.Gln423Lys
XR_001753199.1:n.5966C>A
NM_000227.5:c.871C>A	NP_000218.3:p.Gln291Lys
NM_001127717.3:c.5698C>A	NP_001121189.2:p.Gln1900Lys
NM_001127718.3:c.871C>A	NP_001121190.2:p.Gln291Lys
NM_198129.3:c.5698C>A	NP_937762.2:p.Gln1900Lys
NM_000227.6:c.871C>A MANE Plus Clinical	NP_000218.3:p.Gln291Lys
NM_001127717.4:c.5698C>A	NP_001121189.2:p.Gln1900Lys
NM_001127718.4:c.871C>A	NP_001121190.2:p.Gln291Lys
NM_198129.4:c.5698C>A MANE Select	NP_937762.2:p.Gln1900Lys