Canonical Allele Identifier: CA1047800138
Gene: RBM6 HGNC NCBI

Linked Data

dbSNP Id: rs934512069
gnomAD v3: 3-50038068-C-A
gnomAD v4: 3-50038068-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50038068C>A , CM000665.2:g.50038068C>A GRCh38
NC_000003.11:g.50075501C>A , CM000665.1:g.50075501C>A GRCh37
NC_000003.10:g.50050505C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266022.9:c.1558-10177C>A MANE Select ENSP00000266022.4:n.1558-10177C>A
ENST00000266022.8:c.1558-10177C>A ENSP00000266022.4:n.1558-10177C>A
ENST00000419610.5:c.45-16267C>A ENSP00000396410.1:n.45-16267C>A
ENST00000422955.5:c.-9-10177C>A ENSP00000392939.1:n.-9-10177C>A
ENST00000425608.5:c.1484-10177C>A ENSP00000408665.1:n.1484-10177C>A
ENST00000434592.5:c.-9-10177C>A ENSP00000399942.1:n.-9-10177C>A
ENST00000441115.5:n.497-10177C>A
ENST00000442092.5:c.-9-10177C>A ENSP00000393530.1:n.-9-10177C>A
ENST00000443081.5:c.1162-10177C>A ENSP00000396466.1:n.1162-10177C>A
ENST00000454079.5:c.1162-10177C>A ENSP00000406548.1:n.1162-10177C>A
ENST00000464013.5:n.183-10177C>A
ENST00000483350.1:n.63-10177C>A
NM_001167582.1:c.-9-10177C>A NP_001161054.1:n.-9-10177C>A
NM_005777.2:c.1558-10177C>A NP_005768.1:n.1558-10177C>A
XM_005264784.1:c.1162-10177C>A XP_005264841.1:n.1162-10177C>A
XM_005264785.1:c.115-10177C>A XP_005264842.1:n.115-10177C>A
XM_005264786.1:c.-9-10177C>A XP_005264843.1:n.-9-10177C>A
XM_005264787.1:c.-9-10177C>A XP_005264844.1:n.-9-10177C>A
XM_006712916.1:c.1162-10177C>A XP_006712979.1:n.1162-10177C>A
XR_940359.1:n.1812-10177C>A
XR_940360.1:n.1812-10177C>A
NM_001349190.1:c.-9-10177C>A NP_001336119.1:n.-9-10177C>A
NM_001349191.1:c.-9-10177C>A NP_001336120.1:n.-9-10177C>A
NM_001349192.1:c.-294-8648C>A NP_001336121.1:n.-294-8648C>A
NM_001349193.1:c.-176-9092C>A NP_001336122.1:n.-176-9092C>A
NM_001349194.1:c.16-10177C>A NP_001336123.1:n.16-10177C>A
NR_146071.1:n.293-16267C>A
XM_017005496.2:c.1558-10177C>A XP_016860985.2:n.1558-10177C>A
XM_017005497.1:c.103-10177C>A XP_016860986.1:n.103-10177C>A
XM_017005500.2:c.-176-9092C>A XP_016860989.1:n.-176-9092C>A
XM_017005501.2:c.-127-8648C>A XP_016860990.1:n.-127-8648C>A
XM_017005502.1:c.-9-10177C>A XP_016860991.1:n.-9-10177C>A
XM_024453288.1:c.-294-8648C>A XP_024309056.1:n.-294-8648C>A
XR_001739975.2:n.1703-10177C>A
XR_002959486.1:n.1703-8648C>A
NM_005777.3:c.1558-10177C>A MANE Select NP_005768.1:n.1558-10177C>A
NM_001167582.2:c.-9-10177C>A NP_001161054.1:n.-9-10177C>A
NM_001349190.2:c.-9-10177C>A NP_001336119.1:n.-9-10177C>A
NM_001349191.2:c.-9-10177C>A NP_001336120.1:n.-9-10177C>A
NM_001349192.2:c.-294-8648C>A NP_001336121.1:n.-294-8648C>A
NM_001349193.2:c.-176-9092C>A NP_001336122.1:n.-176-9092C>A
NM_001349194.2:c.16-10177C>A NP_001336123.1:n.16-10177C>A
NR_146071.2:n.187-16267C>A