Canonical Allele Identifier: CA16041933
Gene: LAMA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370555
ClinVar RCV Id: RCV000409185
dbSNP Id: rs1057516584

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23899067T>C , CM000680.2:g.23899067T>C GRCh38
NC_000018.9:g.21479031T>C , CM000680.1:g.21479031T>C GRCh37
NC_000018.8:g.19733029T>C NCBI36
NG_007853.2:g.214470T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000269217.11:c.1009+2T>C MANE Plus Clinical ENSP00000269217.5:n.1009+2T>C
ENST00000313654.14:c.5836+2T>C MANE Select ENSP00000324532.8:n.5836+2T>C
ENST00000649721.1:c.2728+2T>C ENSP00000497885.1:n.2728+2T>C
ENST00000269217.10:c.1009+2T>C ENSP00000269217.5:n.1009+2T>C
ENST00000313654.13:c.5836+2T>C ENSP00000324532.8:n.5836+2T>C
ENST00000399516.7:c.5836+2T>C ENSP00000382432.2:n.5836+2T>C
ENST00000586709.1:n.224+2T>C
ENST00000586751.5:c.614+2T>C
ENST00000587184.5:c.1009+2T>C ENSP00000466557.1:n.1009+2T>C
ENST00000588770.5:n.414+2T>C
NM_000227.4:c.1009+2T>C NP_000218.3:n.1009+2T>C
NM_001127717.2:c.5836+2T>C NP_001121189.2:n.5836+2T>C
NM_001127718.2:c.1009+2T>C NP_001121190.2:n.1009+2T>C
NM_198129.2:c.5836+2T>C NP_937762.2:n.5836+2T>C
XM_011525978.1:c.5863+2T>C XP_011524280.1:n.5863+2T>C
XM_011525979.1:c.5854+2T>C XP_011524281.1:n.5854+2T>C
XM_011525980.1:c.5845+2T>C XP_011524282.1:n.5845+2T>C
XM_011525981.1:c.5731+2T>C XP_011524283.1:n.5731+2T>C
XM_011525982.1:c.5863+2T>C XP_011524284.1:n.5863+2T>C
XM_011525978.2:c.5863+2T>C XP_011524280.1:n.5863+2T>C
XM_011525979.2:c.5854+2T>C XP_011524281.1:n.5854+2T>C
XM_011525980.2:c.5845+2T>C XP_011524282.1:n.5845+2T>C
XM_011525981.2:c.5731+2T>C XP_011524283.1:n.5731+2T>C
XM_011525982.2:c.5863+2T>C XP_011524284.1:n.5863+2T>C
XM_017025743.1:c.3715+2T>C XP_016881232.1:n.3715+2T>C
XM_017025744.1:c.1405+2T>C XP_016881233.1:n.1405+2T>C
XR_001753199.1:n.6104+2T>C
NM_000227.5:c.1009+2T>C NP_000218.3:n.1009+2T>C
NM_001127717.3:c.5836+2T>C NP_001121189.2:n.5836+2T>C
NM_001127718.3:c.1009+2T>C NP_001121190.2:n.1009+2T>C
NM_198129.3:c.5836+2T>C NP_937762.2:n.5836+2T>C
NM_000227.6:c.1009+2T>C MANE Plus Clinical NP_000218.3:n.1009+2T>C
NM_001127717.4:c.5836+2T>C NP_001121189.2:n.5836+2T>C
NM_001127718.4:c.1009+2T>C NP_001121190.2:n.1009+2T>C
NM_198129.4:c.5836+2T>C MANE Select NP_937762.2:n.5836+2T>C