Canonical Allele Identifier: CA10588677
Gene: LAMA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 265228
ClinVar RCV Id: RCV000255139
dbSNP Id: rs886039412

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23928766G>A , CM000680.2:g.23928766G>A GRCh38
NC_000018.9:g.21508730G>A , CM000680.1:g.21508730G>A GRCh37
NC_000018.8:g.19762728G>A NCBI36
NG_007853.2:g.244169G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000269217.11:c.3609+1G>A MANE Plus Clinical ENSP00000269217.5:n.3609+1G>A
ENST00000313654.14:c.8436+1G>A MANE Select ENSP00000324532.8:n.8436+1G>A
ENST00000649721.1:c.5031+1G>A ENSP00000497885.1:n.5031+1G>A
ENST00000269217.10:c.3609+1G>A ENSP00000269217.5:n.3609+1G>A
ENST00000313654.13:c.8436+1G>A ENSP00000324532.8:n.8436+1G>A
ENST00000399516.7:c.8268+1G>A ENSP00000382432.2:n.8268+1G>A
ENST00000586751.5:c.3214+1G>A
ENST00000587184.5:c.3441+1G>A ENSP00000466557.1:n.3441+1G>A
ENST00000588164.2:c.141+1G>A ENSP00000467473.2:n.141+1G>A
ENST00000588770.5:n.3014+1G>A
NM_000227.4:c.3609+1G>A NP_000218.3:n.3609+1G>A
NM_001127717.2:c.8268+1G>A NP_001121189.2:n.8268+1G>A
NM_001127718.2:c.3441+1G>A NP_001121190.2:n.3441+1G>A
NM_198129.2:c.8436+1G>A NP_937762.2:n.8436+1G>A
XM_011525978.1:c.8463+1G>A XP_011524280.1:n.8463+1G>A
XM_011525979.1:c.8454+1G>A XP_011524281.1:n.8454+1G>A
XM_011525980.1:c.8445+1G>A XP_011524282.1:n.8445+1G>A
XM_011525981.1:c.8331+1G>A XP_011524283.1:n.8331+1G>A
XM_011525982.1:c.8166+1G>A XP_011524284.1:n.8166+1G>A
XM_011525978.2:c.8463+1G>A XP_011524280.1:n.8463+1G>A
XM_011525979.2:c.8454+1G>A XP_011524281.1:n.8454+1G>A
XM_011525980.2:c.8445+1G>A XP_011524282.1:n.8445+1G>A
XM_011525981.2:c.8331+1G>A XP_011524283.1:n.8331+1G>A
XM_011525982.2:c.8166+1G>A XP_011524284.1:n.8166+1G>A
XM_017025743.1:c.6315+1G>A XP_016881232.1:n.6315+1G>A
XM_017025744.1:c.4005+1G>A XP_016881233.1:n.4005+1G>A
XR_001753199.1:n.8704+1G>A
NM_000227.5:c.3609+1G>A NP_000218.3:n.3609+1G>A
NM_001127717.3:c.8268+1G>A NP_001121189.2:n.8268+1G>A
NM_001127718.3:c.3441+1G>A NP_001121190.2:n.3441+1G>A
NM_198129.3:c.8436+1G>A NP_937762.2:n.8436+1G>A
NM_000227.6:c.3609+1G>A MANE Plus Clinical NP_000218.3:n.3609+1G>A
NM_001127717.4:c.8268+1G>A NP_001121189.2:n.8268+1G>A
NM_001127718.4:c.3441+1G>A NP_001121190.2:n.3441+1G>A
NM_198129.4:c.8436+1G>A MANE Select NP_937762.2:n.8436+1G>A