Canonical Allele Identifier: CA341859476
Gene: ADAM30 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000369400.2:c.1174A>G MANE Select ENSP00000358407.1:p.Ile392Val
ENST00000369400.1:c.1174A>G ENSP00000358407.1:p.Ile392Val
NM_021794.3:c.1174A>G NP_068566.2:p.Ile392Val
NM_021794.4:c.1174A>G MANE Select NP_068566.2:p.Ile392Val
Search 100 bp 5'
Search 100 bp 3'