Canonical Allele Identifier: CA8915878
Gene: LAMA3 HGNC NCBI

Linked Data

dbSNP Id: rs773922925

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23876361G>A , CM000680.2:g.23876361G>A GRCh38
NC_000018.9:g.21456325G>A , CM000680.1:g.21456325G>A GRCh37
NC_000018.8:g.19710323G>A NCBI36
NG_007853.2:g.191764G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.239G>A MANE Plus Clinical ENSP00000269217.5:p.Cys80Tyr
ENST00000313654.14:c.5066G>A MANE Select ENSP00000324532.8:p.Cys1689Tyr
ENST00000649721.1:c.1958G>A ENSP00000497885.1:p.Cys653Tyr
ENST00000269217.10:c.239G>A ENSP00000269217.5:p.Cys80Tyr
ENST00000313654.13:c.5066G>A ENSP00000324532.8:p.Cys1689Tyr
ENST00000399516.7:c.5066G>A ENSP00000382432.2:p.Cys1689Tyr
ENST00000587184.5:c.239G>A ENSP00000466557.1:p.Cys80Tyr
NM_000227.4:c.239G>A NP_000218.3:p.Cys80Tyr
NM_001127717.2:c.5066G>A NP_001121189.2:p.Cys1689Tyr
NM_001127718.2:c.239G>A NP_001121190.2:p.Cys80Tyr
NM_198129.2:c.5066G>A NP_937762.2:p.Cys1689Tyr
XM_011525978.1:c.5093G>A XP_011524280.1:p.Cys1698Tyr
XM_011525979.1:c.5084G>A XP_011524281.1:p.Cys1695Tyr
XM_011525980.1:c.5075G>A XP_011524282.1:p.Cys1692Tyr
XM_011525981.1:c.4961G>A XP_011524283.1:p.Cys1654Tyr
XM_011525982.1:c.5093G>A XP_011524284.1:p.Cys1698Tyr
XM_011525978.2:c.5093G>A XP_011524280.1:p.Cys1698Tyr
XM_011525979.2:c.5084G>A XP_011524281.1:p.Cys1695Tyr
XM_011525980.2:c.5075G>A XP_011524282.1:p.Cys1692Tyr
XM_011525981.2:c.4961G>A XP_011524283.1:p.Cys1654Tyr
XM_011525982.2:c.5093G>A XP_011524284.1:p.Cys1698Tyr
XM_017025743.1:c.2945G>A XP_016881232.1:p.Cys982Tyr
XM_017025744.1:c.635G>A XP_016881233.1:p.Cys212Tyr
XR_001753199.1:n.5334G>A
NM_000227.5:c.239G>A NP_000218.3:p.Cys80Tyr
NM_001127717.3:c.5066G>A NP_001121189.2:p.Cys1689Tyr
NM_001127718.3:c.239G>A NP_001121190.2:p.Cys80Tyr
NM_198129.3:c.5066G>A NP_937762.2:p.Cys1689Tyr
NM_000227.6:c.239G>A MANE Plus Clinical NP_000218.3:p.Cys80Tyr
NM_001127717.4:c.5066G>A NP_001121189.2:p.Cys1689Tyr
NM_001127718.4:c.239G>A NP_001121190.2:p.Cys80Tyr
NM_198129.4:c.5066G>A MANE Select NP_937762.2:p.Cys1689Tyr