Canonical Allele Identifier: CA402045082
Gene: LAMA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1968008
ClinVar RCV Id: RCV002727187
dbSNP Id: rs1324675927

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23876401A>G , CM000680.2:g.23876401A>G GRCh38
NC_000018.9:g.21456365A>G , CM000680.1:g.21456365A>G GRCh37
NC_000018.8:g.19710363A>G NCBI36
NG_007853.2:g.191804A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000269217.11:c.279A>G MANE Plus Clinical ENSP00000269217.5:p.Ile93Met
ENST00000313654.14:c.5106A>G MANE Select ENSP00000324532.8:p.Ile1702Met
ENST00000649721.1:c.1998A>G ENSP00000497885.1:p.Ile666Met
ENST00000269217.10:c.279A>G ENSP00000269217.5:p.Ile93Met
ENST00000313654.13:c.5106A>G ENSP00000324532.8:p.Ile1702Met
ENST00000399516.7:c.5106A>G ENSP00000382432.2:p.Ile1702Met
ENST00000587184.5:c.279A>G ENSP00000466557.1:p.Ile93Met
NM_000227.4:c.279A>G NP_000218.3:p.Ile93Met
NM_001127717.2:c.5106A>G NP_001121189.2:p.Ile1702Met
NM_001127718.2:c.279A>G NP_001121190.2:p.Ile93Met
NM_198129.2:c.5106A>G NP_937762.2:p.Ile1702Met
XM_011525978.1:c.5133A>G XP_011524280.1:p.Ile1711Met
XM_011525979.1:c.5124A>G XP_011524281.1:p.Ile1708Met
XM_011525980.1:c.5115A>G XP_011524282.1:p.Ile1705Met
XM_011525981.1:c.5001A>G XP_011524283.1:p.Ile1667Met
XM_011525982.1:c.5133A>G XP_011524284.1:p.Ile1711Met
XM_011525978.2:c.5133A>G XP_011524280.1:p.Ile1711Met
XM_011525979.2:c.5124A>G XP_011524281.1:p.Ile1708Met
XM_011525980.2:c.5115A>G XP_011524282.1:p.Ile1705Met
XM_011525981.2:c.5001A>G XP_011524283.1:p.Ile1667Met
XM_011525982.2:c.5133A>G XP_011524284.1:p.Ile1711Met
XM_017025743.1:c.2985A>G XP_016881232.1:p.Ile995Met
XM_017025744.1:c.675A>G XP_016881233.1:p.Ile225Met
XR_001753199.1:n.5374A>G
NM_000227.5:c.279A>G NP_000218.3:p.Ile93Met
NM_001127717.3:c.5106A>G NP_001121189.2:p.Ile1702Met
NM_001127718.3:c.279A>G NP_001121190.2:p.Ile93Met
NM_198129.3:c.5106A>G NP_937762.2:p.Ile1702Met
NM_000227.6:c.279A>G MANE Plus Clinical NP_000218.3:p.Ile93Met
NM_001127717.4:c.5106A>G NP_001121189.2:p.Ile1702Met
NM_001127718.4:c.279A>G NP_001121190.2:p.Ile93Met
NM_198129.4:c.5106A>G MANE Select NP_937762.2:p.Ile1702Met