Canonical Allele Identifier: CA9942861
Gene: LAMA5 HGNC NCBI
COSMIC:
COSM3758701 (not active)
MyVariant.info:
GRCh38 chr20:g.62330822A>G
GRCh37 chr20:g.60905878A>G
Revel Score:
ENST00000252999 (MANE Select) 0.037
gnomAD v2:
20:60905878 A / G
gnomAD v3:
20:62330822 A / G
gnomAD v4:
chr20-62330822-A-G
Joint Max Group AF 0.9436148 (EAS)
Genomes Max Group AF 0.91965899 (EAS)
Exomes Max Group AF 0.94443376 (EAS)
ClinVar RCV:
RCV001617298
ClinVar Variation:
1233173
dbSNP:
3810548
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62330822A>G , CM000682.2:g.62330822A>G GRCh38
NC_000020.10:g.60905878A>G , CM000682.1:g.60905878A>G GRCh37
NC_000020.9:g.60339273A>G NCBI36
NG_050626.1:g.41499T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252999.7:c.3773T>C MANE Select ENSP00000252999.3:p.Met1258Thr
NM_005560.4:c.3773T>C NP_005551.3:p.Met1258Thr
XM_006723796.2:c.3773T>C XP_006723859.1:p.Met1258Thr
XM_006723798.2:c.3773T>C XP_006723861.1:p.Met1258Thr
XM_011528818.1:c.3635T>C XP_011527120.1:p.Met1212Thr
XM_011528819.1:c.3500T>C XP_011527121.1:p.Met1167Thr
XR_936532.1:n.3845T>C
XM_006723796.3:c.3773T>C XP_006723859.1:p.Met1258Thr
XM_006723798.3:c.3773T>C XP_006723861.1:p.Met1258Thr
XM_011528818.2:c.3635T>C XP_011527120.1:p.Met1212Thr
XM_011528819.2:c.3500T>C XP_011527121.1:p.Met1167Thr
XR_936532.2:n.3844T>C
NM_005560.5:c.3773T>C NP_005551.3:p.Met1258Thr
NM_005560.6:c.3773T>C MANE Select NP_005551.3:p.Met1258Thr
Search 100 bp 5'
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