Canonical Allele Identifier: CA375932387

Gene: RBM17

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.6108688A>G , CM000672.2:g.6108688A>G	GRCh38
NC_000010.10:g.6150651A>G , CM000672.1:g.6150651A>G	GRCh37
NC_000010.9:g.6190657A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032905.5:c.508A>G MANE Select	NP_116294.1:p.Met170Val
ENST00000379888.9:c.508A>G MANE Select	ENSP00000369218.4:p.Met170Val
NM_001145547.1:c.508A>G	NP_001139019.1:p.Met170Val
NM_001145547.2:c.508A>G	NP_001139019.1:p.Met170Val
NM_032905.4:c.508A>G	NP_116294.1:p.Met170Val
ENST00000379888.8:c.508A>G	ENSP00000369218.4:p.Met170Val
ENST00000418631.5:c.508A>G	ENSP00000402303.1:p.Met170Val
ENST00000432931.5:c.505A>G	ENSP00000408214.1:p.Met169Val
ENST00000437845.6:c.412A>G	ENSP00000395448.2:p.Met138Val
ENST00000446108.5:c.508A>G	ENSP00000388638.1:p.Met170Val
ENST00000447032.1:c.228A>G
ENST00000481147.1:n.201A>G
XR_001747246.2:n.658A>G