Canonical Allele Identifier: CA341859483
Gene: ADAM30 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119895164A>T , CM000663.2:g.119895164A>T GRCh38
NC_000001.10:g.120437787A>T , CM000663.1:g.120437787A>T GRCh37
NC_000001.9:g.120239310A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369400.2:c.1173T>A MANE Select ENSP00000358407.1:p.Asn391Lys
ENST00000369400.1:c.1173T>A ENSP00000358407.1:p.Asn391Lys
NM_021794.3:c.1173T>A NP_068566.2:p.Asn391Lys
NM_021794.4:c.1173T>A MANE Select NP_068566.2:p.Asn391Lys