Canonical Allele Identifier: CA8916581
Community Standard Title: NM_198129.4(LAMA3):c.7204C>T (p.Arg2402Ter)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23912756C>T , CM000680.2:g.23912756C>T GRCh38
NC_000018.9:g.21492720C>T , CM000680.1:g.21492720C>T GRCh37
NC_000018.8:g.19746718C>T NCBI36
NG_007853.2:g.228159C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.7204C>T MANE Select NP_937762.2:p.Arg2402Ter
ENST00000313654.14:c.7204C>T MANE Select ENSP00000324532.8:p.Arg2402Ter
NM_000227.6:c.2377C>T MANE Plus Clinical NP_000218.3:p.Arg793Ter
ENST00000269217.11:c.2377C>T MANE Plus Clinical ENSP00000269217.5:p.Arg793Ter
NM_000227.4:c.2377C>T NP_000218.3:p.Arg793Ter
NM_000227.5:c.2377C>T NP_000218.3:p.Arg793Ter
NM_001127717.2:c.7036C>T NP_001121189.2:p.Arg2346Ter
NM_001127717.3:c.7036C>T NP_001121189.2:p.Arg2346Ter
NM_001127717.4:c.7036C>T NP_001121189.2:p.Arg2346Ter
NM_001127718.2:c.2209C>T NP_001121190.2:p.Arg737Ter
NM_001127718.3:c.2209C>T NP_001121190.2:p.Arg737Ter
NM_001127718.4:c.2209C>T NP_001121190.2:p.Arg737Ter
NM_198129.2:c.7204C>T NP_937762.2:p.Arg2402Ter
NM_198129.3:c.7204C>T NP_937762.2:p.Arg2402Ter
ENST00000269217.10:c.2377C>T ENSP00000269217.5:p.Arg793Ter
ENST00000313654.13:c.7204C>T ENSP00000324532.8:p.Arg2402Ter
ENST00000399516.7:c.7036C>T ENSP00000382432.2:p.Arg2346Ter
ENST00000586751.5:c.1982C>T
ENST00000587184.5:c.2209C>T ENSP00000466557.1:p.Arg737Ter
ENST00000588770.5:n.1782C>T
ENST00000649721.1:c.3799C>T ENSP00000497885.1:p.Arg1267Ter
XM_011525978.1:c.7231C>T XP_011524280.1:p.Arg2411Ter
XM_011525978.2:c.7231C>T XP_011524280.1:p.Arg2411Ter
XM_011525979.1:c.7222C>T XP_011524281.1:p.Arg2408Ter
XM_011525979.2:c.7222C>T XP_011524281.1:p.Arg2408Ter
XM_011525980.1:c.7213C>T XP_011524282.1:p.Arg2405Ter
XM_011525980.2:c.7213C>T XP_011524282.1:p.Arg2405Ter
XM_011525981.1:c.7099C>T XP_011524283.1:p.Arg2367Ter
XM_011525981.2:c.7099C>T XP_011524283.1:p.Arg2367Ter
XM_011525982.1:c.6934C>T XP_011524284.1:p.Arg2312Ter
XM_011525982.2:c.6934C>T XP_011524284.1:p.Arg2312Ter
XM_017025743.1:c.5083C>T XP_016881232.1:p.Arg1695Ter
XM_017025744.1:c.2773C>T XP_016881233.1:p.Arg925Ter
XR_001753199.1:n.7472C>T