Canonical Allele Identifier: CA16041942
Gene: LAMA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 371440
ClinVar RCV Id: RCV000412368
dbSNP Id: rs1057517272
MyVariant Identifiers: chr18:g.21529728G>C (hg19) chr18:g.23949764G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23949764G>C , CM000680.2:g.23949764G>C GRCh38
NC_000018.9:g.21529728G>C , CM000680.1:g.21529728G>C GRCh37
NC_000018.8:g.19783726G>C NCBI36
NG_007853.2:g.265167G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000269217.11:c.4525-1G>C MANE Plus Clinical ENSP00000269217.5:n.4525-1G>C
ENST00000313654.14:c.9352-1G>C MANE Select ENSP00000324532.8:n.9352-1G>C
ENST00000649721.1:c.5947-1G>C ENSP00000497885.1:n.5947-1G>C
ENST00000269217.10:c.4525-1G>C ENSP00000269217.5:n.4525-1G>C
ENST00000313654.13:c.9352-1G>C ENSP00000324532.8:n.9352-1G>C
ENST00000399516.7:c.9184-1G>C ENSP00000382432.2:n.9184-1G>C
ENST00000587184.5:c.4357-1G>C ENSP00000466557.1:n.4357-1G>C
ENST00000588770.5:n.3930-1G>C
NM_000227.4:c.4525-1G>C NP_000218.3:n.4525-1G>C
NM_001127717.2:c.9184-1G>C NP_001121189.2:n.9184-1G>C
NM_001127718.2:c.4357-1G>C NP_001121190.2:n.4357-1G>C
NM_198129.2:c.9352-1G>C NP_937762.2:n.9352-1G>C
XM_011525978.1:c.9379-1G>C XP_011524280.1:n.9379-1G>C
XM_011525979.1:c.9370-1G>C XP_011524281.1:n.9370-1G>C
XM_011525980.1:c.9361-1G>C XP_011524282.1:n.9361-1G>C
XM_011525981.1:c.9247-1G>C XP_011524283.1:n.9247-1G>C
XM_011525982.1:c.9082-1G>C XP_011524284.1:n.9082-1G>C
XM_011525978.2:c.9379-1G>C XP_011524280.1:n.9379-1G>C
XM_011525979.2:c.9370-1G>C XP_011524281.1:n.9370-1G>C
XM_011525980.2:c.9361-1G>C XP_011524282.1:n.9361-1G>C
XM_011525981.2:c.9247-1G>C XP_011524283.1:n.9247-1G>C
XM_011525982.2:c.9082-1G>C XP_011524284.1:n.9082-1G>C
XM_017025743.1:c.7231-1G>C XP_016881232.1:n.7231-1G>C
XM_017025744.1:c.4921-1G>C XP_016881233.1:n.4921-1G>C
XR_001753199.1:n.9620-1G>C
NM_000227.5:c.4525-1G>C NP_000218.3:n.4525-1G>C
NM_001127717.3:c.9184-1G>C NP_001121189.2:n.9184-1G>C
NM_001127718.3:c.4357-1G>C NP_001121190.2:n.4357-1G>C
NM_198129.3:c.9352-1G>C NP_937762.2:n.9352-1G>C
NM_000227.6:c.4525-1G>C MANE Plus Clinical NP_000218.3:n.4525-1G>C
NM_001127717.4:c.9184-1G>C NP_001121189.2:n.9184-1G>C
NM_001127718.4:c.4357-1G>C NP_001121190.2:n.4357-1G>C
NM_198129.4:c.9352-1G>C MANE Select NP_937762.2:n.9352-1G>C
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