Canonical Allele Identifier: CA402049292

Gene: LAMA3

Linked Data

• dbSNP Id: rs2081127413
• gnomAD v4: 18-23903066-G-A
• MyVariant Identifiers: chr18:g.21483030G>A (hg19) ; chr18:g.23903066G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903066G>A , CM000680.2:g.23903066G>A	GRCh38
NC_000018.9:g.21483030G>A , CM000680.1:g.21483030G>A	GRCh37
NC_000018.8:g.19737028G>A	NCBI36
NG_007853.2:g.218469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1432G>A MANE Plus Clinical	ENSP00000269217.5:p.Ala478Thr
ENST00000313654.14:c.6259G>A MANE Select	ENSP00000324532.8:p.Ala2087Thr
ENST00000649721.1:c.3151G>A	ENSP00000497885.1:p.Ala1051Thr
ENST00000269217.10:c.1432G>A	ENSP00000269217.5:p.Ala478Thr
ENST00000313654.13:c.6259G>A	ENSP00000324532.8:p.Ala2087Thr
ENST00000399516.7:c.6091G>A	ENSP00000382432.2:p.Ala2031Thr
ENST00000586751.5:c.1037G>A
ENST00000587184.5:c.1264G>A	ENSP00000466557.1:p.Ala422Thr
ENST00000588770.5:n.837G>A
NM_000227.4:c.1432G>A	NP_000218.3:p.Ala478Thr
NM_001127717.2:c.6091G>A	NP_001121189.2:p.Ala2031Thr
NM_001127718.2:c.1264G>A	NP_001121190.2:p.Ala422Thr
NM_198129.2:c.6259G>A	NP_937762.2:p.Ala2087Thr
XM_011525978.1:c.6286G>A	XP_011524280.1:p.Ala2096Thr
XM_011525979.1:c.6277G>A	XP_011524281.1:p.Ala2093Thr
XM_011525980.1:c.6268G>A	XP_011524282.1:p.Ala2090Thr
XM_011525981.1:c.6154G>A	XP_011524283.1:p.Ala2052Thr
XM_011525982.1:c.6286G>A	XP_011524284.1:p.Ala2096Thr
XM_011525978.2:c.6286G>A	XP_011524280.1:p.Ala2096Thr
XM_011525979.2:c.6277G>A	XP_011524281.1:p.Ala2093Thr
XM_011525980.2:c.6268G>A	XP_011524282.1:p.Ala2090Thr
XM_011525981.2:c.6154G>A	XP_011524283.1:p.Ala2052Thr
XM_011525982.2:c.6286G>A	XP_011524284.1:p.Ala2096Thr
XM_017025743.1:c.4138G>A	XP_016881232.1:p.Ala1380Thr
XM_017025744.1:c.1828G>A	XP_016881233.1:p.Ala610Thr
XR_001753199.1:n.6527G>A
NM_000227.5:c.1432G>A	NP_000218.3:p.Ala478Thr
NM_001127717.3:c.6091G>A	NP_001121189.2:p.Ala2031Thr
NM_001127718.3:c.1264G>A	NP_001121190.2:p.Ala422Thr
NM_198129.3:c.6259G>A	NP_937762.2:p.Ala2087Thr
NM_000227.6:c.1432G>A MANE Plus Clinical	NP_000218.3:p.Ala478Thr
NM_001127717.4:c.6091G>A	NP_001121189.2:p.Ala2031Thr
NM_001127718.4:c.1264G>A	NP_001121190.2:p.Ala422Thr
NM_198129.4:c.6259G>A MANE Select	NP_937762.2:p.Ala2087Thr