Canonical Allele Identifier: CA16041928
Gene: LAMA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371119
ClinVar RCV Id: RCV000411213
dbSNP Id: rs1057517023

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23876408G>T , CM000680.2:g.23876408G>T GRCh38
NC_000018.9:g.21456372G>T , CM000680.1:g.21456372G>T GRCh37
NC_000018.8:g.19710370G>T NCBI36
NG_007853.2:g.191811G>T

Transcript Alleles

HGVS Amino-acid change
NM_000227.4:c.285+1G>T VV NP_000218.3:p.=
NM_001127717.2:c.5112+1G>T VV NP_001121189.2:p.=
NM_001127718.2:c.285+1G>T VV NP_001121190.2:p.=
NM_198129.2:c.5112+1G>T VV NP_937762.2:p.=
XM_011525978.1:c.5139+1G>T XP_011524280.1:p.=
XM_011525979.1:c.5130+1G>T XP_011524281.1:p.=
XM_011525980.1:c.5121+1G>T XP_011524282.1:p.=
XM_011525981.1:c.5007+1G>T XP_011524283.1:p.=
XM_011525982.1:c.5139+1G>T XP_011524284.1:p.=
XM_011525978.2:c.5139+1G>T XP_011524280.1:p.=
XM_011525979.2:c.5130+1G>T XP_011524281.1:p.=
XM_011525980.2:c.5121+1G>T XP_011524282.1:p.=
XM_011525981.2:c.5007+1G>T XP_011524283.1:p.=
XM_011525982.2:c.5139+1G>T XP_011524284.1:p.=
XM_017025743.1:c.2991+1G>T XP_016881232.1:p.=
XM_017025744.1:c.681+1G>T XP_016881233.1:p.=
XR_001753199.1:n.5380+1G>T
ENST00000269217.10:c.285+1G>T ENSP00000269217.5:p.=
ENST00000313654.13:c.5112+1G>T ENSP00000324532.8:p.=
ENST00000399516.7:n.5112+1G>T ENSP00000382432.2:p.=
ENST00000587184.5:n.285+1G>T ENSP00000466557.1:p.=