Canonical Allele Identifier: CA2290325911
Community Standard Title: NM_198129.4(LAMA3):c.6808C= (p.Arg2270=)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23907639C= , CM000680.2:g.23907639C= GRCh38
NC_000018.9:g.21487603C= , CM000680.1:g.21487603C= GRCh37
NC_000018.8:g.19741601C= NCBI36
NG_007853.2:g.223042C=

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.6808C= MANE Select NP_937762.2:p.Arg2270=
ENST00000313654.14:c.6808C= MANE Select ENSP00000324532.8:p.Arg2270=
NM_000227.6:c.1981C= MANE Plus Clinical NP_000218.3:p.Arg661=
ENST00000269217.11:c.1981C= MANE Plus Clinical ENSP00000269217.5:p.Arg661=
NM_000227.4:c.1981C= NP_000218.3:p.Arg661=
NM_000227.5:c.1981C= NP_000218.3:p.Arg661=
NM_001127717.2:c.6640C= NP_001121189.2:p.Arg2214=
NM_001127717.3:c.6640C= NP_001121189.2:p.Arg2214=
NM_001127717.4:c.6640C= NP_001121189.2:p.Arg2214=
NM_001127718.2:c.1813C= NP_001121190.2:p.Arg605=
NM_001127718.3:c.1813C= NP_001121190.2:p.Arg605=
NM_001127718.4:c.1813C= NP_001121190.2:p.Arg605=
NM_198129.2:c.6808C= NP_937762.2:p.Arg2270=
NM_198129.3:c.6808C= NP_937762.2:p.Arg2270=
ENST00000269217.10:c.1981C= ENSP00000269217.5:p.Arg661=
ENST00000313654.13:c.6808C= ENSP00000324532.8:p.Arg2270=
ENST00000399516.7:c.6640C= ENSP00000382432.2:p.Arg2214=
ENST00000586751.5:c.1586C=
ENST00000587184.5:c.1813C= ENSP00000466557.1:p.Arg605=
ENST00000588770.5:n.1386C=
ENST00000649721.1:c.3611-1514C= ENSP00000497885.1:n.3611-1514C=
XM_011525978.1:c.6835C= XP_011524280.1:p.Arg2279=
XM_011525978.2:c.6835C= XP_011524280.1:p.Arg2279=
XM_011525979.1:c.6826C= XP_011524281.1:p.Arg2276=
XM_011525979.2:c.6826C= XP_011524281.1:p.Arg2276=
XM_011525980.1:c.6817C= XP_011524282.1:p.Arg2273=
XM_011525980.2:c.6817C= XP_011524282.1:p.Arg2273=
XM_011525981.1:c.6703C= XP_011524283.1:p.Arg2235=
XM_011525981.2:c.6703C= XP_011524283.1:p.Arg2235=
XM_011525982.1:c.6746-1514C= XP_011524284.1:n.6746-1514C=
XM_011525982.2:c.6746-1514C= XP_011524284.1:n.6746-1514C=
XM_017025743.1:c.4687C= XP_016881232.1:p.Arg1563=
XM_017025744.1:c.2377C= XP_016881233.1:p.Arg793=
XR_001753199.1:n.7076C=