Canonical Allele Identifier: CA297091425
Gene: LAMA3 HGNC NCBI

Linked Data

dbSNP Id: rs1050584138

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23876294G>C , CM000680.2:g.23876294G>C GRCh38
NC_000018.9:g.21456258G>C , CM000680.1:g.21456258G>C GRCh37
NC_000018.8:g.19710256G>C NCBI36
NG_007853.2:g.191697G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.172G>C MANE Plus Clinical ENSP00000269217.5:p.Gly58Arg
ENST00000313654.14:c.4999G>C MANE Select ENSP00000324532.8:p.Gly1667Arg
ENST00000649721.1:c.1891G>C ENSP00000497885.1:p.Gly631Arg
ENST00000269217.10:c.172G>C ENSP00000269217.5:p.Gly58Arg
ENST00000313654.13:c.4999G>C ENSP00000324532.8:p.Gly1667Arg
ENST00000399516.7:c.4999G>C ENSP00000382432.2:p.Gly1667Arg
ENST00000587184.5:c.172G>C ENSP00000466557.1:p.Gly58Arg
NM_000227.4:c.172G>C NP_000218.3:p.Gly58Arg
NM_001127717.2:c.4999G>C NP_001121189.2:p.Gly1667Arg
NM_001127718.2:c.172G>C NP_001121190.2:p.Gly58Arg
NM_198129.2:c.4999G>C NP_937762.2:p.Gly1667Arg
XM_011525978.1:c.5026G>C XP_011524280.1:p.Gly1676Arg
XM_011525979.1:c.5017G>C XP_011524281.1:p.Gly1673Arg
XM_011525980.1:c.5008G>C XP_011524282.1:p.Gly1670Arg
XM_011525981.1:c.4894G>C XP_011524283.1:p.Gly1632Arg
XM_011525982.1:c.5026G>C XP_011524284.1:p.Gly1676Arg
XM_011525978.2:c.5026G>C XP_011524280.1:p.Gly1676Arg
XM_011525979.2:c.5017G>C XP_011524281.1:p.Gly1673Arg
XM_011525980.2:c.5008G>C XP_011524282.1:p.Gly1670Arg
XM_011525981.2:c.4894G>C XP_011524283.1:p.Gly1632Arg
XM_011525982.2:c.5026G>C XP_011524284.1:p.Gly1676Arg
XM_017025743.1:c.2878G>C XP_016881232.1:p.Gly960Arg
XM_017025744.1:c.568G>C XP_016881233.1:p.Gly190Arg
XR_001753199.1:n.5267G>C
NM_000227.5:c.172G>C NP_000218.3:p.Gly58Arg
NM_001127717.3:c.4999G>C NP_001121189.2:p.Gly1667Arg
NM_001127718.3:c.172G>C NP_001121190.2:p.Gly58Arg
NM_198129.3:c.4999G>C NP_937762.2:p.Gly1667Arg
NM_000227.6:c.172G>C MANE Plus Clinical NP_000218.3:p.Gly58Arg
NM_001127717.4:c.4999G>C NP_001121189.2:p.Gly1667Arg
NM_001127718.4:c.172G>C NP_001121190.2:p.Gly58Arg
NM_198129.4:c.4999G>C MANE Select NP_937762.2:p.Gly1667Arg