Canonical Allele Identifier: CA402045090

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23876405-G-A
• MyVariant Identifiers: chr18:g.21456369G>A (hg19) ; chr18:g.23876405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876405G>A , CM000680.2:g.23876405G>A	GRCh38
NC_000018.9:g.21456369G>A , CM000680.1:g.21456369G>A	GRCh37
NC_000018.8:g.19710367G>A	NCBI36
NG_007853.2:g.191808G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.283G>A MANE Plus Clinical	ENSP00000269217.5:p.Val95Ile
ENST00000313654.14:c.5110G>A MANE Select	ENSP00000324532.8:p.Val1704Ile
ENST00000649721.1:c.2002G>A	ENSP00000497885.1:p.Val668Ile
ENST00000269217.10:c.283G>A	ENSP00000269217.5:p.Val95Ile
ENST00000313654.13:c.5110G>A	ENSP00000324532.8:p.Val1704Ile
ENST00000399516.7:c.5110G>A	ENSP00000382432.2:p.Val1704Ile
ENST00000587184.5:c.283G>A	ENSP00000466557.1:p.Val95Ile
NM_000227.4:c.283G>A	NP_000218.3:p.Val95Ile
NM_001127717.2:c.5110G>A	NP_001121189.2:p.Val1704Ile
NM_001127718.2:c.283G>A	NP_001121190.2:p.Val95Ile
NM_198129.2:c.5110G>A	NP_937762.2:p.Val1704Ile
XM_011525978.1:c.5137G>A	XP_011524280.1:p.Val1713Ile
XM_011525979.1:c.5128G>A	XP_011524281.1:p.Val1710Ile
XM_011525980.1:c.5119G>A	XP_011524282.1:p.Val1707Ile
XM_011525981.1:c.5005G>A	XP_011524283.1:p.Val1669Ile
XM_011525982.1:c.5137G>A	XP_011524284.1:p.Val1713Ile
XM_011525978.2:c.5137G>A	XP_011524280.1:p.Val1713Ile
XM_011525979.2:c.5128G>A	XP_011524281.1:p.Val1710Ile
XM_011525980.2:c.5119G>A	XP_011524282.1:p.Val1707Ile
XM_011525981.2:c.5005G>A	XP_011524283.1:p.Val1669Ile
XM_011525982.2:c.5137G>A	XP_011524284.1:p.Val1713Ile
XM_017025743.1:c.2989G>A	XP_016881232.1:p.Val997Ile
XM_017025744.1:c.679G>A	XP_016881233.1:p.Val227Ile
XR_001753199.1:n.5378G>A
NM_000227.5:c.283G>A	NP_000218.3:p.Val95Ile
NM_001127717.3:c.5110G>A	NP_001121189.2:p.Val1704Ile
NM_001127718.3:c.283G>A	NP_001121190.2:p.Val95Ile
NM_198129.3:c.5110G>A	NP_937762.2:p.Val1704Ile
NM_000227.6:c.283G>A MANE Plus Clinical	NP_000218.3:p.Val95Ile
NM_001127717.4:c.5110G>A	NP_001121189.2:p.Val1704Ile
NM_001127718.4:c.283G>A	NP_001121190.2:p.Val95Ile
NM_198129.4:c.5110G>A MANE Select	NP_937762.2:p.Val1704Ile