Canonical Allele Identifier: CA402063416
Gene: LAMA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23928229G>T , CM000680.2:g.23928229G>T GRCh38
NC_000018.9:g.21508193G>T , CM000680.1:g.21508193G>T GRCh37
NC_000018.8:g.19762191G>T NCBI36
NG_007853.2:g.243632G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.3457G>T MANE Plus Clinical ENSP00000269217.5:p.Glu1153Ter
ENST00000313654.14:c.8284G>T MANE Select ENSP00000324532.8:p.Glu2762Ter
ENST00000649721.1:c.4879G>T ENSP00000497885.1:p.Glu1627Ter
ENST00000269217.10:c.3457G>T ENSP00000269217.5:p.Glu1153Ter
ENST00000313654.13:c.8284G>T ENSP00000324532.8:p.Glu2762Ter
ENST00000399516.7:c.8116G>T ENSP00000382432.2:p.Glu2706Ter
ENST00000586751.5:c.3062G>T
ENST00000587184.5:c.3289G>T ENSP00000466557.1:p.Glu1097Ter
ENST00000588770.5:n.2862G>T
NM_000227.4:c.3457G>T NP_000218.3:p.Glu1153Ter
NM_001127717.2:c.8116G>T NP_001121189.2:p.Glu2706Ter
NM_001127718.2:c.3289G>T NP_001121190.2:p.Glu1097Ter
NM_198129.2:c.8284G>T NP_937762.2:p.Glu2762Ter
XM_011525978.1:c.8311G>T XP_011524280.1:p.Glu2771Ter
XM_011525979.1:c.8302G>T XP_011524281.1:p.Glu2768Ter
XM_011525980.1:c.8293G>T XP_011524282.1:p.Glu2765Ter
XM_011525981.1:c.8179G>T XP_011524283.1:p.Glu2727Ter
XM_011525982.1:c.8014G>T XP_011524284.1:p.Glu2672Ter
XM_011525978.2:c.8311G>T XP_011524280.1:p.Glu2771Ter
XM_011525979.2:c.8302G>T XP_011524281.1:p.Glu2768Ter
XM_011525980.2:c.8293G>T XP_011524282.1:p.Glu2765Ter
XM_011525981.2:c.8179G>T XP_011524283.1:p.Glu2727Ter
XM_011525982.2:c.8014G>T XP_011524284.1:p.Glu2672Ter
XM_017025743.1:c.6163G>T XP_016881232.1:p.Glu2055Ter
XM_017025744.1:c.3853G>T XP_016881233.1:p.Glu1285Ter
XR_001753199.1:n.8552G>T
NM_000227.5:c.3457G>T NP_000218.3:p.Glu1153Ter
NM_001127717.3:c.8116G>T NP_001121189.2:p.Glu2706Ter
NM_001127718.3:c.3289G>T NP_001121190.2:p.Glu1097Ter
NM_198129.3:c.8284G>T NP_937762.2:p.Glu2762Ter
NM_000227.6:c.3457G>T MANE Plus Clinical NP_000218.3:p.Glu1153Ter
NM_001127717.4:c.8116G>T NP_001121189.2:p.Glu2706Ter
NM_001127718.4:c.3289G>T NP_001121190.2:p.Glu1097Ter
NM_198129.4:c.8284G>T MANE Select NP_937762.2:p.Glu2762Ter