Canonical Allele Identifier: CA402059321
Gene: LAMA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23915391C>A , CM000680.2:g.23915391C>A GRCh38
NC_000018.9:g.21495355C>A , CM000680.1:g.21495355C>A GRCh37
NC_000018.8:g.19749353C>A NCBI36
NG_007853.2:g.230794C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.2920C>A MANE Plus Clinical ENSP00000269217.5:p.Leu974Ile
ENST00000313654.14:c.7747C>A MANE Select ENSP00000324532.8:p.Leu2583Ile
ENST00000649721.1:c.4342C>A ENSP00000497885.1:p.Leu1448Ile
ENST00000269217.10:c.2920C>A ENSP00000269217.5:p.Leu974Ile
ENST00000313654.13:c.7747C>A ENSP00000324532.8:p.Leu2583Ile
ENST00000399516.7:c.7579C>A ENSP00000382432.2:p.Leu2527Ile
ENST00000586751.5:c.2525C>A
ENST00000587184.5:c.2752C>A ENSP00000466557.1:p.Leu918Ile
ENST00000588770.5:n.2325C>A
NM_000227.4:c.2920C>A NP_000218.3:p.Leu974Ile
NM_001127717.2:c.7579C>A NP_001121189.2:p.Leu2527Ile
NM_001127718.2:c.2752C>A NP_001121190.2:p.Leu918Ile
NM_198129.2:c.7747C>A NP_937762.2:p.Leu2583Ile
XM_011525978.1:c.7774C>A XP_011524280.1:p.Leu2592Ile
XM_011525979.1:c.7765C>A XP_011524281.1:p.Leu2589Ile
XM_011525980.1:c.7756C>A XP_011524282.1:p.Leu2586Ile
XM_011525981.1:c.7642C>A XP_011524283.1:p.Leu2548Ile
XM_011525982.1:c.7477C>A XP_011524284.1:p.Leu2493Ile
XM_011525978.2:c.7774C>A XP_011524280.1:p.Leu2592Ile
XM_011525979.2:c.7765C>A XP_011524281.1:p.Leu2589Ile
XM_011525980.2:c.7756C>A XP_011524282.1:p.Leu2586Ile
XM_011525981.2:c.7642C>A XP_011524283.1:p.Leu2548Ile
XM_011525982.2:c.7477C>A XP_011524284.1:p.Leu2493Ile
XM_017025743.1:c.5626C>A XP_016881232.1:p.Leu1876Ile
XM_017025744.1:c.3316C>A XP_016881233.1:p.Leu1106Ile
XR_001753199.1:n.8015C>A
NM_000227.5:c.2920C>A NP_000218.3:p.Leu974Ile
NM_001127717.3:c.7579C>A NP_001121189.2:p.Leu2527Ile
NM_001127718.3:c.2752C>A NP_001121190.2:p.Leu918Ile
NM_198129.3:c.7747C>A NP_937762.2:p.Leu2583Ile
NM_000227.6:c.2920C>A MANE Plus Clinical NP_000218.3:p.Leu974Ile
NM_001127717.4:c.7579C>A NP_001121189.2:p.Leu2527Ile
NM_001127718.4:c.2752C>A NP_001121190.2:p.Leu918Ile
NM_198129.4:c.7747C>A MANE Select NP_937762.2:p.Leu2583Ile