Canonical Allele Identifier: CA402063317

Gene: LAMA3

Linked Data

• dbSNP Id: rs2082063825
• gnomAD v3: 18-23928217-A-G
• gnomAD v4: 18-23928217-A-G
• MyVariant Identifiers: chr18:g.21508181A>G (hg19) ; chr18:g.23928217A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928217A>G , CM000680.2:g.23928217A>G	GRCh38
NC_000018.9:g.21508181A>G , CM000680.1:g.21508181A>G	GRCh37
NC_000018.8:g.19762179A>G	NCBI36
NG_007853.2:g.243620A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.3445A>G MANE Plus Clinical	ENSP00000269217.5:p.Lys1149Glu
ENST00000313654.14:c.8272A>G MANE Select	ENSP00000324532.8:p.Lys2758Glu
ENST00000649721.1:c.4867A>G	ENSP00000497885.1:p.Lys1623Glu
ENST00000269217.10:c.3445A>G	ENSP00000269217.5:p.Lys1149Glu
ENST00000313654.13:c.8272A>G	ENSP00000324532.8:p.Lys2758Glu
ENST00000399516.7:c.8104A>G	ENSP00000382432.2:p.Lys2702Glu
ENST00000586751.5:c.3050A>G
ENST00000587184.5:c.3277A>G	ENSP00000466557.1:p.Lys1093Glu
ENST00000588770.5:n.2850A>G
NM_000227.4:c.3445A>G	NP_000218.3:p.Lys1149Glu
NM_001127717.2:c.8104A>G	NP_001121189.2:p.Lys2702Glu
NM_001127718.2:c.3277A>G	NP_001121190.2:p.Lys1093Glu
NM_198129.2:c.8272A>G	NP_937762.2:p.Lys2758Glu
XM_011525978.1:c.8299A>G	XP_011524280.1:p.Lys2767Glu
XM_011525979.1:c.8290A>G	XP_011524281.1:p.Lys2764Glu
XM_011525980.1:c.8281A>G	XP_011524282.1:p.Lys2761Glu
XM_011525981.1:c.8167A>G	XP_011524283.1:p.Lys2723Glu
XM_011525982.1:c.8002A>G	XP_011524284.1:p.Lys2668Glu
XM_011525978.2:c.8299A>G	XP_011524280.1:p.Lys2767Glu
XM_011525979.2:c.8290A>G	XP_011524281.1:p.Lys2764Glu
XM_011525980.2:c.8281A>G	XP_011524282.1:p.Lys2761Glu
XM_011525981.2:c.8167A>G	XP_011524283.1:p.Lys2723Glu
XM_011525982.2:c.8002A>G	XP_011524284.1:p.Lys2668Glu
XM_017025743.1:c.6151A>G	XP_016881232.1:p.Lys2051Glu
XM_017025744.1:c.3841A>G	XP_016881233.1:p.Lys1281Glu
XR_001753199.1:n.8540A>G
NM_000227.5:c.3445A>G	NP_000218.3:p.Lys1149Glu
NM_001127717.3:c.8104A>G	NP_001121189.2:p.Lys2702Glu
NM_001127718.3:c.3277A>G	NP_001121190.2:p.Lys1093Glu
NM_198129.3:c.8272A>G	NP_937762.2:p.Lys2758Glu
NM_000227.6:c.3445A>G MANE Plus Clinical	NP_000218.3:p.Lys1149Glu
NM_001127717.4:c.8104A>G	NP_001121189.2:p.Lys2702Glu
NM_001127718.4:c.3277A>G	NP_001121190.2:p.Lys1093Glu
NM_198129.4:c.8272A>G MANE Select	NP_937762.2:p.Lys2758Glu