Canonical Allele Identifier: CA9940341
Gene: LAMA5 HGNC NCBI
COSMIC:
COSM444167 (not active)
MyVariant.info:
GRCh38 chr20:g.62312525G>A
GRCh37 chr20:g.60887581G>A
Revel Score:
ENST00000252999 (MANE Select) 0.337
gnomAD v2:
20:60887581 G / A
gnomAD v3:
20:62312525 G / A
gnomAD v4:
chr20-62312525-G-A
Joint Max Group AF 0.72451036 (SAS)
Genomes Max Group AF 0.73533732 (SAS)
Exomes Max Group AF 0.72289461 (SAS)
ClinVar RCV:
RCV001724994
ClinVar Variation:
1297290
dbSNP:
944895
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62312525G>A , CM000682.2:g.62312525G>A GRCh38
NC_000020.10:g.60887581G>A , CM000682.1:g.60887581G>A GRCh37
NC_000020.9:g.60320976G>A NCBI36
NG_050626.1:g.59796C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252999.7:c.9235C>T MANE Select ENSP00000252999.3:p.Arg3079Trp
ENST00000370691.6:n.1184C>T
ENST00000491036.2:n.338C>T
NM_005560.4:c.9235C>T NP_005551.3:p.Arg3079Trp
XM_006723796.2:c.9235C>T XP_006723859.1:p.Arg3079Trp
XM_011528818.1:c.9097C>T XP_011527120.1:p.Arg3033Trp
XM_011528819.1:c.8962C>T XP_011527121.1:p.Arg2988Trp
XR_936532.1:n.9307C>T
XM_006723796.3:c.9235C>T XP_006723859.1:p.Arg3079Trp
XM_011528818.2:c.9097C>T XP_011527120.1:p.Arg3033Trp
XM_011528819.2:c.8962C>T XP_011527121.1:p.Arg2988Trp
XR_936532.2:n.9306C>T
NM_005560.5:c.9235C>T NP_005551.3:p.Arg3079Trp
NM_005560.6:c.9235C>T MANE Select NP_005551.3:p.Arg3079Trp
Search 100 bp 5'
Search 100 bp 3'