Canonical Allele Identifier: CA14824025
Gene: LAMA5 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.62345988T>C
GRCh37 chr20:g.60921044T>C
gnomAD v2:
20:60921044 T / C
gnomAD v3:
20:62345988 T / C
gnomAD v4:
chr20-62345988-T-C
Joint Max Group AF 0.77237359 (EAS)
Genomes Max Group AF 0.73185789 (EAS)
Exomes Max Group AF 0.77553093 (EAS)
ClinVar RCV:
RCV001724995
ClinVar Variation:
1297291
dbSNP:
4925386
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62345988T>C , CM000682.2:g.62345988T>C GRCh38
NC_000020.10:g.60921044T>C , CM000682.1:g.60921044T>C GRCh37
NC_000020.9:g.60354439T>C NCBI36
NG_050626.1:g.26333A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252999.7:c.1417+93A>G MANE Select ENSP00000252999.3:n.1417+93A>G
ENST00000370677.4:n.1442+93A>G
NM_005560.4:c.1417+93A>G NP_005551.3:n.1417+93A>G
XM_006723796.2:c.1417+93A>G XP_006723859.1:n.1417+93A>G
XM_006723798.2:c.1417+93A>G XP_006723861.1:n.1417+93A>G
XM_011528818.1:c.1417+93A>G XP_011527120.1:n.1417+93A>G
XM_011528819.1:c.1417+93A>G XP_011527121.1:n.1417+93A>G
XR_936532.1:n.1489+93A>G
XM_006723796.3:c.1417+93A>G XP_006723859.1:n.1417+93A>G
XM_006723798.3:c.1417+93A>G XP_006723861.1:n.1417+93A>G
XM_011528818.2:c.1417+93A>G XP_011527120.1:n.1417+93A>G
XM_011528819.2:c.1417+93A>G XP_011527121.1:n.1417+93A>G
XR_936532.2:n.1488+93A>G
NM_005560.5:c.1417+93A>G NP_005551.3:n.1417+93A>G
NM_005560.6:c.1417+93A>G MANE Select NP_005551.3:n.1417+93A>G
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