Canonical Allele Identifier: CA402049285

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23903064-C-G
• MyVariant Identifiers: chr18:g.21483028C>G (hg19) ; chr18:g.23903064C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903064C>G , CM000680.2:g.23903064C>G	GRCh38
NC_000018.9:g.21483028C>G , CM000680.1:g.21483028C>G	GRCh37
NC_000018.8:g.19737026C>G	NCBI36
NG_007853.2:g.218467C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1430C>G MANE Plus Clinical	ENSP00000269217.5:p.Thr477Ser
ENST00000313654.14:c.6257C>G MANE Select	ENSP00000324532.8:p.Thr2086Ser
ENST00000649721.1:c.3149C>G	ENSP00000497885.1:p.Thr1050Ser
ENST00000269217.10:c.1430C>G	ENSP00000269217.5:p.Thr477Ser
ENST00000313654.13:c.6257C>G	ENSP00000324532.8:p.Thr2086Ser
ENST00000399516.7:c.6089C>G	ENSP00000382432.2:p.Thr2030Ser
ENST00000586751.5:c.1035C>G
ENST00000587184.5:c.1262C>G	ENSP00000466557.1:p.Thr421Ser
ENST00000588770.5:n.835C>G
NM_000227.4:c.1430C>G	NP_000218.3:p.Thr477Ser
NM_001127717.2:c.6089C>G	NP_001121189.2:p.Thr2030Ser
NM_001127718.2:c.1262C>G	NP_001121190.2:p.Thr421Ser
NM_198129.2:c.6257C>G	NP_937762.2:p.Thr2086Ser
XM_011525978.1:c.6284C>G	XP_011524280.1:p.Thr2095Ser
XM_011525979.1:c.6275C>G	XP_011524281.1:p.Thr2092Ser
XM_011525980.1:c.6266C>G	XP_011524282.1:p.Thr2089Ser
XM_011525981.1:c.6152C>G	XP_011524283.1:p.Thr2051Ser
XM_011525982.1:c.6284C>G	XP_011524284.1:p.Thr2095Ser
XM_011525978.2:c.6284C>G	XP_011524280.1:p.Thr2095Ser
XM_011525979.2:c.6275C>G	XP_011524281.1:p.Thr2092Ser
XM_011525980.2:c.6266C>G	XP_011524282.1:p.Thr2089Ser
XM_011525981.2:c.6152C>G	XP_011524283.1:p.Thr2051Ser
XM_011525982.2:c.6284C>G	XP_011524284.1:p.Thr2095Ser
XM_017025743.1:c.4136C>G	XP_016881232.1:p.Thr1379Ser
XM_017025744.1:c.1826C>G	XP_016881233.1:p.Thr609Ser
XR_001753199.1:n.6525C>G
NM_000227.5:c.1430C>G	NP_000218.3:p.Thr477Ser
NM_001127717.3:c.6089C>G	NP_001121189.2:p.Thr2030Ser
NM_001127718.3:c.1262C>G	NP_001121190.2:p.Thr421Ser
NM_198129.3:c.6257C>G	NP_937762.2:p.Thr2086Ser
NM_000227.6:c.1430C>G MANE Plus Clinical	NP_000218.3:p.Thr477Ser
NM_001127717.4:c.6089C>G	NP_001121189.2:p.Thr2030Ser
NM_001127718.4:c.1262C>G	NP_001121190.2:p.Thr421Ser
NM_198129.4:c.6257C>G MANE Select	NP_937762.2:p.Thr2086Ser