Canonical Allele Identifier: CA402063028
Community Standard Title: NM_198129.4(LAMA3):c.8211C>A (p.Cys2737Ter)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23928156C>A , CM000680.2:g.23928156C>A GRCh38
NC_000018.9:g.21508120C>A , CM000680.1:g.21508120C>A GRCh37
NC_000018.8:g.19762118C>A NCBI36
NG_007853.2:g.243559C>A

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.8211C>A MANE Select NP_937762.2:p.Cys2737Ter
ENST00000313654.14:c.8211C>A MANE Select ENSP00000324532.8:p.Cys2737Ter
NM_000227.6:c.3384C>A MANE Plus Clinical NP_000218.3:p.Cys1128Ter
ENST00000269217.11:c.3384C>A MANE Plus Clinical ENSP00000269217.5:p.Cys1128Ter
NM_000227.4:c.3384C>A NP_000218.3:p.Cys1128Ter
NM_000227.5:c.3384C>A NP_000218.3:p.Cys1128Ter
NM_001127717.2:c.8043C>A NP_001121189.2:p.Cys2681Ter
NM_001127717.3:c.8043C>A NP_001121189.2:p.Cys2681Ter
NM_001127717.4:c.8043C>A NP_001121189.2:p.Cys2681Ter
NM_001127718.2:c.3216C>A NP_001121190.2:p.Cys1072Ter
NM_001127718.3:c.3216C>A NP_001121190.2:p.Cys1072Ter
NM_001127718.4:c.3216C>A NP_001121190.2:p.Cys1072Ter
NM_198129.2:c.8211C>A NP_937762.2:p.Cys2737Ter
NM_198129.3:c.8211C>A NP_937762.2:p.Cys2737Ter
ENST00000269217.10:c.3384C>A ENSP00000269217.5:p.Cys1128Ter
ENST00000313654.13:c.8211C>A ENSP00000324532.8:p.Cys2737Ter
ENST00000399516.7:c.8043C>A ENSP00000382432.2:p.Cys2681Ter
ENST00000586751.5:c.2989C>A
ENST00000587184.5:c.3216C>A ENSP00000466557.1:p.Cys1072Ter
ENST00000588770.5:n.2789C>A
ENST00000649721.1:c.4806C>A ENSP00000497885.1:p.Cys1602Ter
XM_011525978.1:c.8238C>A XP_011524280.1:p.Cys2746Ter
XM_011525978.2:c.8238C>A XP_011524280.1:p.Cys2746Ter
XM_011525979.1:c.8229C>A XP_011524281.1:p.Cys2743Ter
XM_011525979.2:c.8229C>A XP_011524281.1:p.Cys2743Ter
XM_011525980.1:c.8220C>A XP_011524282.1:p.Cys2740Ter
XM_011525980.2:c.8220C>A XP_011524282.1:p.Cys2740Ter
XM_011525981.1:c.8106C>A XP_011524283.1:p.Cys2702Ter
XM_011525981.2:c.8106C>A XP_011524283.1:p.Cys2702Ter
XM_011525982.1:c.7941C>A XP_011524284.1:p.Cys2647Ter
XM_011525982.2:c.7941C>A XP_011524284.1:p.Cys2647Ter
XM_017025743.1:c.6090C>A XP_016881232.1:p.Cys2030Ter
XM_017025744.1:c.3780C>A XP_016881233.1:p.Cys1260Ter
XR_001753199.1:n.8479C>A