Canonical Allele Identifier: CA15993992

Gene: SAMM50

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43995806G>A , CM000684.2:g.43995806G>A	GRCh38
NC_000022.10:g.44391686G>A , CM000684.1:g.44391686G>A	GRCh37
NC_000022.9:g.42723019G>A	NCBI36
NG_029057.1:g.45426G>A
NG_029743.1:g.1596G>A
NG_029057.2:g.45426G>A
NG_029743.2:g.1596G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350028.5:c.1365-532G>A MANE Select	ENSP00000345445.4:n.1365-532G>A
ENST00000350028.4:c.1365-532G>A	ENSP00000345445.4:n.1365-532G>A
ENST00000465768.1:n.79+5400G>A
ENST00000474323.5:n.2177-532G>A
ENST00000493621.1:n.100+316G>A
ENST00000494795.1:n.3057-532G>A
NM_015380.4:c.1365-532G>A	NP_056195.3:n.1365-532G>A
NM_015380.5:c.1365-532G>A MANE Select	NP_056195.3:n.1365-532G>A