Canonical Allele Identifier: CA402048702

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23903031-C-A
• MyVariant Identifiers: chr18:g.21482995C>A (hg19) ; chr18:g.23903031C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903031C>A , CM000680.2:g.23903031C>A	GRCh38
NC_000018.9:g.21482995C>A , CM000680.1:g.21482995C>A	GRCh37
NC_000018.8:g.19736993C>A	NCBI36
NG_007853.2:g.218434C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1397C>A MANE Plus Clinical	ENSP00000269217.5:p.Ser466Tyr
ENST00000313654.14:c.6224C>A MANE Select	ENSP00000324532.8:p.Ser2075Tyr
ENST00000649721.1:c.3116C>A	ENSP00000497885.1:p.Ser1039Tyr
ENST00000269217.10:c.1397C>A	ENSP00000269217.5:p.Ser466Tyr
ENST00000313654.13:c.6224C>A	ENSP00000324532.8:p.Ser2075Tyr
ENST00000399516.7:c.6056C>A	ENSP00000382432.2:p.Ser2019Tyr
ENST00000586751.5:c.1002C>A
ENST00000587184.5:c.1229C>A	ENSP00000466557.1:p.Ser410Tyr
ENST00000588770.5:n.802C>A
NM_000227.4:c.1397C>A	NP_000218.3:p.Ser466Tyr
NM_001127717.2:c.6056C>A	NP_001121189.2:p.Ser2019Tyr
NM_001127718.2:c.1229C>A	NP_001121190.2:p.Ser410Tyr
NM_198129.2:c.6224C>A	NP_937762.2:p.Ser2075Tyr
XM_011525978.1:c.6251C>A	XP_011524280.1:p.Ser2084Tyr
XM_011525979.1:c.6242C>A	XP_011524281.1:p.Ser2081Tyr
XM_011525980.1:c.6233C>A	XP_011524282.1:p.Ser2078Tyr
XM_011525981.1:c.6119C>A	XP_011524283.1:p.Ser2040Tyr
XM_011525982.1:c.6251C>A	XP_011524284.1:p.Ser2084Tyr
XM_011525978.2:c.6251C>A	XP_011524280.1:p.Ser2084Tyr
XM_011525979.2:c.6242C>A	XP_011524281.1:p.Ser2081Tyr
XM_011525980.2:c.6233C>A	XP_011524282.1:p.Ser2078Tyr
XM_011525981.2:c.6119C>A	XP_011524283.1:p.Ser2040Tyr
XM_011525982.2:c.6251C>A	XP_011524284.1:p.Ser2084Tyr
XM_017025743.1:c.4103C>A	XP_016881232.1:p.Ser1368Tyr
XM_017025744.1:c.1793C>A	XP_016881233.1:p.Ser598Tyr
XR_001753199.1:n.6492C>A
NM_000227.5:c.1397C>A	NP_000218.3:p.Ser466Tyr
NM_001127717.3:c.6056C>A	NP_001121189.2:p.Ser2019Tyr
NM_001127718.3:c.1229C>A	NP_001121190.2:p.Ser410Tyr
NM_198129.3:c.6224C>A	NP_937762.2:p.Ser2075Tyr
NM_000227.6:c.1397C>A MANE Plus Clinical	NP_000218.3:p.Ser466Tyr
NM_001127717.4:c.6056C>A	NP_001121189.2:p.Ser2019Tyr
NM_001127718.4:c.1229C>A	NP_001121190.2:p.Ser410Tyr
NM_198129.4:c.6224C>A MANE Select	NP_937762.2:p.Ser2075Tyr