Canonical Allele Identifier: CA2290325074
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23905624G= , CM000680.2:g.23905624G= GRCh38
NC_000018.9:g.21485588G= , CM000680.1:g.21485588G= GRCh37
NC_000018.8:g.19739586G= NCBI36
NG_007853.2:g.221027G=

Transcript Alleles

HGVS Amino-acid change
ENST00000269217.11:c.1891G= MANE Plus Clinical ENSP00000269217.5:p.Glu631=
ENST00000313654.14:c.6718G= MANE Select ENSP00000324532.8:p.Glu2240=
ENST00000649721.1:c.3610G= ENSP00000497885.1:p.Val1204=
ENST00000269217.10:c.1891G= ENSP00000269217.5:p.Glu631=
ENST00000313654.13:c.6718G= ENSP00000324532.8:p.Glu2240=
ENST00000399516.7:c.6550G= ENSP00000382432.2:p.Glu2184=
ENST00000586751.5:c.1496G=
ENST00000587184.5:c.1723G= ENSP00000466557.1:p.Glu575=
ENST00000588770.5:n.1296G=
NM_000227.4:c.1891G= NP_000218.3:p.Glu631=
NM_001127717.2:c.6550G= NP_001121189.2:p.Glu2184=
NM_001127718.2:c.1723G= NP_001121190.2:p.Glu575=
NM_198129.2:c.6718G= NP_937762.2:p.Glu2240=
XM_011525978.1:c.6745G= XP_011524280.1:p.Glu2249=
XM_011525979.1:c.6736G= XP_011524281.1:p.Glu2246=
XM_011525980.1:c.6727G= XP_011524282.1:p.Glu2243=
XM_011525981.1:c.6613G= XP_011524283.1:p.Glu2205=
XM_011525982.1:c.6745G= XP_011524284.1:p.Val2249=
XM_011525978.2:c.6745G= XP_011524280.1:p.Glu2249=
XM_011525979.2:c.6736G= XP_011524281.1:p.Glu2246=
XM_011525980.2:c.6727G= XP_011524282.1:p.Glu2243=
XM_011525981.2:c.6613G= XP_011524283.1:p.Glu2205=
XM_011525982.2:c.6745G= XP_011524284.1:p.Val2249=
XM_017025743.1:c.4597G= XP_016881232.1:p.Glu1533=
XM_017025744.1:c.2287G= XP_016881233.1:p.Glu763=
XR_001753199.1:n.6986G=
NM_000227.5:c.1891G= NP_000218.3:p.Glu631=
NM_001127717.3:c.6550G= NP_001121189.2:p.Glu2184=
NM_001127718.3:c.1723G= NP_001121190.2:p.Glu575=
NM_198129.3:c.6718G= NP_937762.2:p.Glu2240=
NM_000227.6:c.1891G= MANE Plus Clinical NP_000218.3:p.Glu631=
NM_001127717.4:c.6550G= NP_001121189.2:p.Glu2184=
NM_001127718.4:c.1723G= NP_001121190.2:p.Glu575=
NM_198129.4:c.6718G= MANE Select NP_937762.2:p.Glu2240=