Canonical Allele Identifier: CA8508772
Community Standard Title: NM_145654.4(RDM1):c.742G>A (p.Gly248Ser)
Gene: RDM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35920198C>T , CM000679.2:g.35920198C>T GRCh38
NC_000017.10:g.34247202C>T , CM000679.1:g.34247202C>T GRCh37
NC_000017.9:g.31271315C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_145654.4:c.742G>A MANE Select NP_663629.1:p.Gly248Ser
ENST00000620284.5:c.742G>A MANE Select ENSP00000483549.1:p.Gly248Ser
NM_001163120.1:c.400-1755G>A NP_001156592.1:n.400-1755G>A
NM_001163120.2:c.400-1755G>A NP_001156592.1:n.400-1755G>A
NM_001163121.1:c.643G>A NP_001156593.1:p.Gly215Ser
NM_001163121.2:c.643G>A NP_001156593.1:p.Gly215Ser
NM_001163122.1:c.574G>A NP_001156594.1:p.Gly192Ser
NM_001163124.1:c.331-1755G>A NP_001156596.1:n.331-1755G>A
NM_001163130.1:c.673G>A NP_001156602.1:p.Gly225Ser
NM_145654.3:c.742G>A NP_663629.1:p.Gly248Ser
NR_027996.1:n.442G>A
NR_027996.2:n.439G>A
NR_027997.1:n.622G>A
NR_027997.2:n.619G>A
NR_027998.1:n.523G>A
NR_027998.2:n.520G>A
NR_027999.1:n.422G>A
NR_028000.1:n.521G>A
ENST00000612980.4:c.400-1755G>A ENSP00000483387.1:n.400-1755G>A
ENST00000615024.4:c.504G>A ENSP00000481648.1:n.504G>A
ENST00000615288.4:c.474G>A ENSP00000477869.1:n.474G>A
ENST00000616596.4:c.643G>A ENSP00000478915.1:p.Gly215Ser
ENST00000617591.4:c.331-1755G>A ENSP00000479622.1:n.331-1755G>A
ENST00000618511.4:c.405G>A ENSP00000477995.1:n.405G>A
ENST00000619193.4:c.573G>A ENSP00000482981.1:n.573G>A
ENST00000619262.4:c.673G>A ENSP00000479310.1:p.Gly225Ser
ENST00000619368.4:c.393G>A ENSP00000478131.1:n.393G>A
ENST00000619828.4:c.574G>A ENSP00000483933.1:p.Gly192Ser
ENST00000620284.4:c.742G>A ENSP00000483549.1:p.Gly248Ser