Canonical Allele Identifier: CA15401519
Gene: SMIM33 HGNC NCBI

Linked Data

dbSNP Id: rs13181561
gnomAD v2: 5-138850905-G-A
gnomAD v3: 5-139471320-G-A
gnomAD v4: 5-139471320-G-A
MyVariant Identifiers: chr5:g.138850905G>A (hg19) chr5:g.139471320G>A (hg38)
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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
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