Canonical Allele Identifier: CA15401519

Gene: SMIM33

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139471320G>A , CM000667.2:g.139471320G>A	GRCh38
NC_000005.9:g.138850905G>A , CM000667.1:g.138850905G>A	GRCh37
NC_000005.8:g.138831089G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000637503.2:c.9+190G>A MANE Select	ENSP00000490796.1:n.9+190G>A
ENST00000637503.1:c.9+190G>A	ENSP00000490796.1:n.9+190G>A
NM_001365197.1:c.9+190G>A MANE Select	NP_001352126.1:n.9+190G>A
XR_002956229.1:n.291+27G>A