Canonical Allele Identifier: CA8916556
Community Standard Title: NM_198129.4(LAMA3):c.7121G>A (p.Arg2374Gln)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23909258G>A , CM000680.2:g.23909258G>A GRCh38
NC_000018.9:g.21489222G>A , CM000680.1:g.21489222G>A GRCh37
NC_000018.8:g.19743220G>A NCBI36
NG_007853.2:g.224661G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.7121G>A MANE Select NP_937762.2:p.Arg2374Gln
ENST00000313654.14:c.7121G>A MANE Select ENSP00000324532.8:p.Arg2374Gln
NM_000227.6:c.2294G>A MANE Plus Clinical NP_000218.3:p.Arg765Gln
ENST00000269217.11:c.2294G>A MANE Plus Clinical ENSP00000269217.5:p.Arg765Gln
NM_000227.4:c.2294G>A NP_000218.3:p.Arg765Gln
NM_000227.5:c.2294G>A NP_000218.3:p.Arg765Gln
NM_001127717.2:c.6953G>A NP_001121189.2:p.Arg2318Gln
NM_001127717.3:c.6953G>A NP_001121189.2:p.Arg2318Gln
NM_001127717.4:c.6953G>A NP_001121189.2:p.Arg2318Gln
NM_001127718.2:c.2126G>A NP_001121190.2:p.Arg709Gln
NM_001127718.3:c.2126G>A NP_001121190.2:p.Arg709Gln
NM_001127718.4:c.2126G>A NP_001121190.2:p.Arg709Gln
NM_198129.2:c.7121G>A NP_937762.2:p.Arg2374Gln
NM_198129.3:c.7121G>A NP_937762.2:p.Arg2374Gln
ENST00000269217.10:c.2294G>A ENSP00000269217.5:p.Arg765Gln
ENST00000313654.13:c.7121G>A ENSP00000324532.8:p.Arg2374Gln
ENST00000399516.7:c.6953G>A ENSP00000382432.2:p.Arg2318Gln
ENST00000586751.5:c.1899G>A
ENST00000587184.5:c.2126G>A ENSP00000466557.1:p.Arg709Gln
ENST00000588770.5:n.1699G>A
ENST00000649721.1:c.3716G>A ENSP00000497885.1:p.Arg1239Gln
XM_011525978.1:c.7148G>A XP_011524280.1:p.Arg2383Gln
XM_011525978.2:c.7148G>A XP_011524280.1:p.Arg2383Gln
XM_011525979.1:c.7139G>A XP_011524281.1:p.Arg2380Gln
XM_011525979.2:c.7139G>A XP_011524281.1:p.Arg2380Gln
XM_011525980.1:c.7130G>A XP_011524282.1:p.Arg2377Gln
XM_011525980.2:c.7130G>A XP_011524282.1:p.Arg2377Gln
XM_011525981.1:c.7016G>A XP_011524283.1:p.Arg2339Gln
XM_011525981.2:c.7016G>A XP_011524283.1:p.Arg2339Gln
XM_011525982.1:c.6851G>A XP_011524284.1:p.Arg2284Gln
XM_011525982.2:c.6851G>A XP_011524284.1:p.Arg2284Gln
XM_017025743.1:c.5000G>A XP_016881232.1:p.Arg1667Gln
XM_017025744.1:c.2690G>A XP_016881233.1:p.Arg897Gln
XR_001753199.1:n.7389G>A