Canonical Allele Identifier: CA402057181
Community Standard Title: NM_198129.4(LAMA3):c.7546G>C (p.Gly2516Arg)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23914762G>C , CM000680.2:g.23914762G>C GRCh38
NC_000018.9:g.21494726G>C , CM000680.1:g.21494726G>C GRCh37
NC_000018.8:g.19748724G>C NCBI36
NG_007853.2:g.230165G>C

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.7546G>C MANE Select NP_937762.2:p.Gly2516Arg
ENST00000313654.14:c.7546G>C MANE Select ENSP00000324532.8:p.Gly2516Arg
NM_000227.6:c.2719G>C MANE Plus Clinical NP_000218.3:p.Gly907Arg
ENST00000269217.11:c.2719G>C MANE Plus Clinical ENSP00000269217.5:p.Gly907Arg
NM_000227.4:c.2719G>C NP_000218.3:p.Gly907Arg
NM_000227.5:c.2719G>C NP_000218.3:p.Gly907Arg
NM_001127717.2:c.7378G>C NP_001121189.2:p.Gly2460Arg
NM_001127717.3:c.7378G>C NP_001121189.2:p.Gly2460Arg
NM_001127717.4:c.7378G>C NP_001121189.2:p.Gly2460Arg
NM_001127718.2:c.2551G>C NP_001121190.2:p.Gly851Arg
NM_001127718.3:c.2551G>C NP_001121190.2:p.Gly851Arg
NM_001127718.4:c.2551G>C NP_001121190.2:p.Gly851Arg
NM_198129.2:c.7546G>C NP_937762.2:p.Gly2516Arg
NM_198129.3:c.7546G>C NP_937762.2:p.Gly2516Arg
ENST00000269217.10:c.2719G>C ENSP00000269217.5:p.Gly907Arg
ENST00000313654.13:c.7546G>C ENSP00000324532.8:p.Gly2516Arg
ENST00000399516.7:c.7378G>C ENSP00000382432.2:p.Gly2460Arg
ENST00000586751.5:c.2324G>C
ENST00000587184.5:c.2551G>C ENSP00000466557.1:p.Gly851Arg
ENST00000588770.5:n.2124G>C
ENST00000649721.1:c.4141G>C ENSP00000497885.1:p.Gly1381Arg
XM_011525978.1:c.7573G>C XP_011524280.1:p.Gly2525Arg
XM_011525978.2:c.7573G>C XP_011524280.1:p.Gly2525Arg
XM_011525979.1:c.7564G>C XP_011524281.1:p.Gly2522Arg
XM_011525979.2:c.7564G>C XP_011524281.1:p.Gly2522Arg
XM_011525980.1:c.7555G>C XP_011524282.1:p.Gly2519Arg
XM_011525980.2:c.7555G>C XP_011524282.1:p.Gly2519Arg
XM_011525981.1:c.7441G>C XP_011524283.1:p.Gly2481Arg
XM_011525981.2:c.7441G>C XP_011524283.1:p.Gly2481Arg
XM_011525982.1:c.7276G>C XP_011524284.1:p.Gly2426Arg
XM_011525982.2:c.7276G>C XP_011524284.1:p.Gly2426Arg
XM_017025743.1:c.5425G>C XP_016881232.1:p.Gly1809Arg
XM_017025744.1:c.3115G>C XP_016881233.1:p.Gly1039Arg
XR_001753199.1:n.7814G>C