Canonical Allele Identifier: CA420188672
Gene: ADAM30 HGNC NCBI

Linked Data

gnomAD v4: 1-119895172-G-A
MyVariant Identifiers: chr1:g.120437795G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119895172G>A , CM000663.2:g.119895172G>A GRCh38
NC_000001.10:g.120437795G>A , CM000663.1:g.120437795G>A GRCh37
NC_000001.9:g.120239318G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369400.2:c.1165C>T MANE Select ENSP00000358407.1:p.Leu389=
ENST00000369400.1:c.1165C>T ENSP00000358407.1:p.Leu389=
NM_021794.3:c.1165C>T NP_068566.2:p.Leu389=
NM_021794.4:c.1165C>T MANE Select NP_068566.2:p.Leu389=
Search 100 bp 5'
Search 100 bp 3'