Canonical Allele Identifier: CA402044882

Gene: LAMA3

Linked Data

• dbSNP Id: rs1475513198
• gnomAD v2: 18-21456274-A-G
• gnomAD v4: 18-23876310-A-G
• MyVariant Identifiers: chr18:g.21456274A>G (hg19) ; chr18:g.23876310A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876310A>G , CM000680.2:g.23876310A>G	GRCh38
NC_000018.9:g.21456274A>G , CM000680.1:g.21456274A>G	GRCh37
NC_000018.8:g.19710272A>G	NCBI36
NG_007853.2:g.191713A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.188A>G MANE Plus Clinical	ENSP00000269217.5:p.Tyr63Cys
ENST00000313654.14:c.5015A>G MANE Select	ENSP00000324532.8:p.Tyr1672Cys
ENST00000649721.1:c.1907A>G	ENSP00000497885.1:p.Tyr636Cys
ENST00000269217.10:c.188A>G	ENSP00000269217.5:p.Tyr63Cys
ENST00000313654.13:c.5015A>G	ENSP00000324532.8:p.Tyr1672Cys
ENST00000399516.7:c.5015A>G	ENSP00000382432.2:p.Tyr1672Cys
ENST00000587184.5:c.188A>G	ENSP00000466557.1:p.Tyr63Cys
NM_000227.4:c.188A>G	NP_000218.3:p.Tyr63Cys
NM_001127717.2:c.5015A>G	NP_001121189.2:p.Tyr1672Cys
NM_001127718.2:c.188A>G	NP_001121190.2:p.Tyr63Cys
NM_198129.2:c.5015A>G	NP_937762.2:p.Tyr1672Cys
XM_011525978.1:c.5042A>G	XP_011524280.1:p.Tyr1681Cys
XM_011525979.1:c.5033A>G	XP_011524281.1:p.Tyr1678Cys
XM_011525980.1:c.5024A>G	XP_011524282.1:p.Tyr1675Cys
XM_011525981.1:c.4910A>G	XP_011524283.1:p.Tyr1637Cys
XM_011525982.1:c.5042A>G	XP_011524284.1:p.Tyr1681Cys
XM_011525978.2:c.5042A>G	XP_011524280.1:p.Tyr1681Cys
XM_011525979.2:c.5033A>G	XP_011524281.1:p.Tyr1678Cys
XM_011525980.2:c.5024A>G	XP_011524282.1:p.Tyr1675Cys
XM_011525981.2:c.4910A>G	XP_011524283.1:p.Tyr1637Cys
XM_011525982.2:c.5042A>G	XP_011524284.1:p.Tyr1681Cys
XM_017025743.1:c.2894A>G	XP_016881232.1:p.Tyr965Cys
XM_017025744.1:c.584A>G	XP_016881233.1:p.Tyr195Cys
XR_001753199.1:n.5283A>G
NM_000227.5:c.188A>G	NP_000218.3:p.Tyr63Cys
NM_001127717.3:c.5015A>G	NP_001121189.2:p.Tyr1672Cys
NM_001127718.3:c.188A>G	NP_001121190.2:p.Tyr63Cys
NM_198129.3:c.5015A>G	NP_937762.2:p.Tyr1672Cys
NM_000227.6:c.188A>G MANE Plus Clinical	NP_000218.3:p.Tyr63Cys
NM_001127717.4:c.5015A>G	NP_001121189.2:p.Tyr1672Cys
NM_001127718.4:c.188A>G	NP_001121190.2:p.Tyr63Cys
NM_198129.4:c.5015A>G MANE Select	NP_937762.2:p.Tyr1672Cys