Canonical Allele Identifier: CA1026114924

Gene: SAMM50

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43998522C>A , CM000684.2:g.43998522C>A	GRCh38
NC_000022.10:g.44394402C>A , CM000684.1:g.44394402C>A	GRCh37
NC_000022.9:g.42725735C>A	NCBI36
NG_029057.1:g.48142C>A
NG_029743.1:g.4312C>A
NG_029057.2:g.48142C>A
NG_029743.2:g.4312C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465768.1:n.79+8116C>A