Canonical Allele Identifier: CA16041940
Gene: LAMA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370783
ClinVar RCV Id: RCV000412371
dbSNP Id: rs1057516764

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23928765G>A , CM000680.2:g.23928765G>A GRCh38
NC_000018.9:g.21508729G>A , CM000680.1:g.21508729G>A GRCh37
NC_000018.8:g.19762727G>A NCBI36
NG_007853.2:g.244168G>A

Transcript Alleles

HGVS Amino-acid change
NM_000227.4:c.3609G>A VV NP_000218.3:p.Trp1203Ter
NM_001127717.2:c.8268G>A VV NP_001121189.2:p.Trp2756Ter
NM_001127718.2:c.3441G>A VV NP_001121190.2:p.Trp1147Ter
NM_198129.2:c.8436G>A VV NP_937762.2:p.Trp2812Ter
XM_011525978.1:c.8463G>A XP_011524280.1:p.Trp2821Ter
XM_011525979.1:c.8454G>A XP_011524281.1:p.Trp2818Ter
XM_011525980.1:c.8445G>A XP_011524282.1:p.Trp2815Ter
XM_011525981.1:c.8331G>A XP_011524283.1:p.Trp2777Ter
XM_011525982.1:c.8166G>A XP_011524284.1:p.Trp2722Ter
XM_011525978.2:c.8463G>A XP_011524280.1:p.Trp2821Ter
XM_011525979.2:c.8454G>A XP_011524281.1:p.Trp2818Ter
XM_011525980.2:c.8445G>A XP_011524282.1:p.Trp2815Ter
XM_011525981.2:c.8331G>A XP_011524283.1:p.Trp2777Ter
XM_011525982.2:c.8166G>A XP_011524284.1:p.Trp2722Ter
XM_017025743.1:c.6315G>A XP_016881232.1:p.Trp2105Ter
XM_017025744.1:c.4005G>A XP_016881233.1:p.Trp1335Ter
XR_001753199.1:n.8704G>A
ENST00000269217.10:c.3609G>A ENSP00000269217.5:p.Trp1203Ter
ENST00000313654.13:c.8436G>A ENSP00000324532.8:p.Trp2812Ter
ENST00000399516.7:n.8268G>A ENSP00000382432.2:p.Trp2756Ter
ENST00000586751.5:n.3214G>A
ENST00000587184.5:n.3441G>A ENSP00000466557.1:p.Trp1147Ter
ENST00000588164.2:n.141G>A ENSP00000467473.2:p.Trp47Ter
ENST00000588770.5:n.3014G>A