Canonical Allele Identifier: CA1039061
Gene: ADAM30 HGNC NCBI
COSMIC:
COSM4985245 (not active)
MyVariant.info:
GRCh38 chr1:g.119895261A>G
GRCh37 chr1:g.120437884A>G
Revel Score:
ENST00000369400 (MANE Select) 0.032
ENST00000543066 0.032
gnomAD v2:
1:120437884 A / G
gnomAD v3:
1:119895261 A / G
gnomAD v4:
chr1-119895261-A-G
Joint Max Group AF 0.32522982 (AFR)
Genomes Max Group AF 0.32105001 (AFR)
Exomes Max Group AF 0.32724065 (AFR)
dbSNP:
2641348
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119895261A>G , CM000663.2:g.119895261A>G GRCh38
NC_000001.10:g.120437884A>G , CM000663.1:g.120437884A>G GRCh37
NC_000001.9:g.120239407A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369400.2:c.1076T>C MANE Select ENSP00000358407.1:p.Leu359Pro
ENST00000369400.1:c.1076T>C ENSP00000358407.1:p.Leu359Pro
NM_021794.3:c.1076T>C NP_068566.2:p.Leu359Pro
NM_021794.4:c.1076T>C MANE Select NP_068566.2:p.Leu359Pro
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