Canonical Allele Identifier: CA8916086
Community Standard Title: NM_198129.4(LAMA3):c.5522G>A (p.Arg1841His)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23894967G>A , CM000680.2:g.23894967G>A GRCh38
NC_000018.9:g.21474931G>A , CM000680.1:g.21474931G>A GRCh37
NC_000018.8:g.19728929G>A NCBI36
NG_007853.2:g.210370G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.5522G>A MANE Select NP_937762.2:p.Arg1841His
ENST00000313654.14:c.5522G>A MANE Select ENSP00000324532.8:p.Arg1841His
NM_000227.6:c.695G>A MANE Plus Clinical NP_000218.3:p.Arg232His
ENST00000269217.11:c.695G>A MANE Plus Clinical ENSP00000269217.5:p.Arg232His
NM_000227.4:c.695G>A NP_000218.3:p.Arg232His
NM_000227.5:c.695G>A NP_000218.3:p.Arg232His
NM_001127717.2:c.5522G>A NP_001121189.2:p.Arg1841His
NM_001127717.3:c.5522G>A NP_001121189.2:p.Arg1841His
NM_001127717.4:c.5522G>A NP_001121189.2:p.Arg1841His
NM_001127718.2:c.695G>A NP_001121190.2:p.Arg232His
NM_001127718.3:c.695G>A NP_001121190.2:p.Arg232His
NM_001127718.4:c.695G>A NP_001121190.2:p.Arg232His
NM_198129.2:c.5522G>A NP_937762.2:p.Arg1841His
NM_198129.3:c.5522G>A NP_937762.2:p.Arg1841His
ENST00000269217.10:c.695G>A ENSP00000269217.5:p.Arg232His
ENST00000313654.13:c.5522G>A ENSP00000324532.8:p.Arg1841His
ENST00000399516.7:c.5522G>A ENSP00000382432.2:p.Arg1841His
ENST00000586751.5:c.300G>A
ENST00000587184.5:c.695G>A ENSP00000466557.1:p.Arg232His
ENST00000649721.1:c.2414G>A ENSP00000497885.1:p.Arg805His
XM_011525978.1:c.5549G>A XP_011524280.1:p.Arg1850His
XM_011525978.2:c.5549G>A XP_011524280.1:p.Arg1850His
XM_011525979.1:c.5540G>A XP_011524281.1:p.Arg1847His
XM_011525979.2:c.5540G>A XP_011524281.1:p.Arg1847His
XM_011525980.1:c.5531G>A XP_011524282.1:p.Arg1844His
XM_011525980.2:c.5531G>A XP_011524282.1:p.Arg1844His
XM_011525981.1:c.5417G>A XP_011524283.1:p.Arg1806His
XM_011525981.2:c.5417G>A XP_011524283.1:p.Arg1806His
XM_011525982.1:c.5549G>A XP_011524284.1:p.Arg1850His
XM_011525982.2:c.5549G>A XP_011524284.1:p.Arg1850His
XM_017025743.1:c.3401G>A XP_016881232.1:p.Arg1134His
XM_017025744.1:c.1091G>A XP_016881233.1:p.Arg364His
XR_001753199.1:n.5790G>A