Canonical Allele Identifier: CA8916735

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 734769
• ClinVar RCV Id: RCV000910225 ; RCV001128073 ; RCV001128074 ; RCV004533486
• dbSNP Id: rs145848988
• ExAC: 18:21495348 A / G
• gnomAD v2: 18-21495348-A-G
• gnomAD v3: 18-23915384-A-G
• gnomAD v4: 18-23915384-A-G
• MyVariant Identifiers: chr18:g.21495348A>G (hg19) ; chr18:g.23915384A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915384A>G , CM000680.2:g.23915384A>G	GRCh38
NC_000018.9:g.21495348A>G , CM000680.1:g.21495348A>G	GRCh37
NC_000018.8:g.19749346A>G	NCBI36
NG_007853.2:g.230787A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2913A>G MANE Plus Clinical	ENSP00000269217.5:p.Thr971=
ENST00000313654.14:c.7740A>G MANE Select	ENSP00000324532.8:p.Thr2580=
ENST00000649721.1:c.4335A>G	ENSP00000497885.1:p.Thr1445=
ENST00000269217.10:c.2913A>G	ENSP00000269217.5:p.Thr971=
ENST00000313654.13:c.7740A>G	ENSP00000324532.8:p.Thr2580=
ENST00000399516.7:c.7572A>G	ENSP00000382432.2:p.Thr2524=
ENST00000586751.5:c.2518A>G
ENST00000587184.5:c.2745A>G	ENSP00000466557.1:p.Thr915=
ENST00000588770.5:n.2318A>G
NM_000227.4:c.2913A>G	NP_000218.3:p.Thr971=
NM_001127717.2:c.7572A>G	NP_001121189.2:p.Thr2524=
NM_001127718.2:c.2745A>G	NP_001121190.2:p.Thr915=
NM_198129.2:c.7740A>G	NP_937762.2:p.Thr2580=
XM_011525978.1:c.7767A>G	XP_011524280.1:p.Thr2589=
XM_011525979.1:c.7758A>G	XP_011524281.1:p.Thr2586=
XM_011525980.1:c.7749A>G	XP_011524282.1:p.Thr2583=
XM_011525981.1:c.7635A>G	XP_011524283.1:p.Thr2545=
XM_011525982.1:c.7470A>G	XP_011524284.1:p.Thr2490=
XM_011525978.2:c.7767A>G	XP_011524280.1:p.Thr2589=
XM_011525979.2:c.7758A>G	XP_011524281.1:p.Thr2586=
XM_011525980.2:c.7749A>G	XP_011524282.1:p.Thr2583=
XM_011525981.2:c.7635A>G	XP_011524283.1:p.Thr2545=
XM_011525982.2:c.7470A>G	XP_011524284.1:p.Thr2490=
XM_017025743.1:c.5619A>G	XP_016881232.1:p.Thr1873=
XM_017025744.1:c.3309A>G	XP_016881233.1:p.Thr1103=
XR_001753199.1:n.8008A>G
NM_000227.5:c.2913A>G	NP_000218.3:p.Thr971=
NM_001127717.3:c.7572A>G	NP_001121189.2:p.Thr2524=
NM_001127718.3:c.2745A>G	NP_001121190.2:p.Thr915=
NM_198129.3:c.7740A>G	NP_937762.2:p.Thr2580=
NM_000227.6:c.2913A>G MANE Plus Clinical	NP_000218.3:p.Thr971=
NM_001127717.4:c.7572A>G	NP_001121189.2:p.Thr2524=
NM_001127718.4:c.2745A>G	NP_001121190.2:p.Thr915=
NM_198129.4:c.7740A>G MANE Select	NP_937762.2:p.Thr2580=