Canonical Allele Identifier: CA402053031

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23907768-C-A
• MyVariant Identifiers: chr18:g.21487732C>A (hg19) ; chr18:g.23907768C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23907768C>A , CM000680.2:g.23907768C>A	GRCh38
NC_000018.9:g.21487732C>A , CM000680.1:g.21487732C>A	GRCh37
NC_000018.8:g.19741730C>A	NCBI36
NG_007853.2:g.223171C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.2021C>A MANE Plus Clinical	ENSP00000269217.5:p.Ala674Asp
ENST00000313654.14:c.6848C>A MANE Select	ENSP00000324532.8:p.Ala2283Asp
ENST00000649721.1:c.3611-1385C>A	ENSP00000497885.1:n.3611-1385C>A
ENST00000269217.10:c.2021C>A	ENSP00000269217.5:p.Ala674Asp
ENST00000313654.13:c.6848C>A	ENSP00000324532.8:p.Ala2283Asp
ENST00000399516.7:c.6680C>A	ENSP00000382432.2:p.Ala2227Asp
ENST00000586751.5:c.1626C>A
ENST00000587184.5:c.1853C>A	ENSP00000466557.1:p.Ala618Asp
ENST00000588770.5:n.1426C>A
NM_000227.4:c.2021C>A	NP_000218.3:p.Ala674Asp
NM_001127717.2:c.6680C>A	NP_001121189.2:p.Ala2227Asp
NM_001127718.2:c.1853C>A	NP_001121190.2:p.Ala618Asp
NM_198129.2:c.6848C>A	NP_937762.2:p.Ala2283Asp
XM_011525978.1:c.6875C>A	XP_011524280.1:p.Ala2292Asp
XM_011525979.1:c.6866C>A	XP_011524281.1:p.Ala2289Asp
XM_011525980.1:c.6857C>A	XP_011524282.1:p.Ala2286Asp
XM_011525981.1:c.6743C>A	XP_011524283.1:p.Ala2248Asp
XM_011525982.1:c.6746-1385C>A	XP_011524284.1:n.6746-1385C>A
XM_011525978.2:c.6875C>A	XP_011524280.1:p.Ala2292Asp
XM_011525979.2:c.6866C>A	XP_011524281.1:p.Ala2289Asp
XM_011525980.2:c.6857C>A	XP_011524282.1:p.Ala2286Asp
XM_011525981.2:c.6743C>A	XP_011524283.1:p.Ala2248Asp
XM_011525982.2:c.6746-1385C>A	XP_011524284.1:n.6746-1385C>A
XM_017025743.1:c.4727C>A	XP_016881232.1:p.Ala1576Asp
XM_017025744.1:c.2417C>A	XP_016881233.1:p.Ala806Asp
XR_001753199.1:n.7116C>A
NM_000227.5:c.2021C>A	NP_000218.3:p.Ala674Asp
NM_001127717.3:c.6680C>A	NP_001121189.2:p.Ala2227Asp
NM_001127718.3:c.1853C>A	NP_001121190.2:p.Ala618Asp
NM_198129.3:c.6848C>A	NP_937762.2:p.Ala2283Asp
NM_000227.6:c.2021C>A MANE Plus Clinical	NP_000218.3:p.Ala674Asp
NM_001127717.4:c.6680C>A	NP_001121189.2:p.Ala2227Asp
NM_001127718.4:c.1853C>A	NP_001121190.2:p.Ala618Asp
NM_198129.4:c.6848C>A MANE Select	NP_937762.2:p.Ala2283Asp