Canonical Allele Identifier: CA341859474
Gene: ADAM30 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120437786T>A (hg19) chr1:g.119895163T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119895163T>A , CM000663.2:g.119895163T>A GRCh38
NC_000001.10:g.120437786T>A , CM000663.1:g.120437786T>A GRCh37
NC_000001.9:g.120239309T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369400.2:c.1174A>T MANE Select ENSP00000358407.1:p.Ile392Phe
ENST00000369400.1:c.1174A>T ENSP00000358407.1:p.Ile392Phe
NM_021794.3:c.1174A>T NP_068566.2:p.Ile392Phe
NM_021794.4:c.1174A>T MANE Select NP_068566.2:p.Ile392Phe
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