Canonical Allele Identifier: CA341859544
Gene: ADAM30 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119895174C>G , CM000663.2:g.119895174C>G GRCh38
NC_000001.10:g.120437797C>G , CM000663.1:g.120437797C>G GRCh37
NC_000001.9:g.120239320C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369400.2:c.1163G>C MANE Select ENSP00000358407.1:p.Cys388Ser
ENST00000369400.1:c.1163G>C ENSP00000358407.1:p.Cys388Ser
NM_021794.3:c.1163G>C NP_068566.2:p.Cys388Ser
NM_021794.4:c.1163G>C MANE Select NP_068566.2:p.Cys388Ser