Canonical Allele Identifier: CA74559753

Gene: RBM6

Linked Data

• dbSNP Id: rs972043363
• gnomAD v3: 3-50038111-C-T
• gnomAD v4: 3-50038111-C-T
• MyVariant Identifiers: chr3:g.50075544C>T (hg19) ; chr3:g.50038111C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50038111C>T , CM000665.2:g.50038111C>T	GRCh38
NC_000003.11:g.50075544C>T , CM000665.1:g.50075544C>T	GRCh37
NC_000003.10:g.50050548C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266022.9:c.1558-10134C>T MANE Select	ENSP00000266022.4:n.1558-10134C>T
ENST00000266022.8:c.1558-10134C>T	ENSP00000266022.4:n.1558-10134C>T
ENST00000419610.5:c.45-16224C>T	ENSP00000396410.1:n.45-16224C>T
ENST00000422955.5:c.-9-10134C>T	ENSP00000392939.1:n.-9-10134C>T
ENST00000425608.5:c.1484-10134C>T	ENSP00000408665.1:n.1484-10134C>T
ENST00000434592.5:c.-9-10134C>T	ENSP00000399942.1:n.-9-10134C>T
ENST00000441115.5:n.497-10134C>T
ENST00000442092.5:c.-9-10134C>T	ENSP00000393530.1:n.-9-10134C>T
ENST00000443081.5:c.1162-10134C>T	ENSP00000396466.1:n.1162-10134C>T
ENST00000454079.5:c.1162-10134C>T	ENSP00000406548.1:n.1162-10134C>T
ENST00000464013.5:n.183-10134C>T
ENST00000483350.1:n.63-10134C>T
NM_001167582.1:c.-9-10134C>T	NP_001161054.1:n.-9-10134C>T
NM_005777.2:c.1558-10134C>T	NP_005768.1:n.1558-10134C>T
XM_005264784.1:c.1162-10134C>T	XP_005264841.1:n.1162-10134C>T
XM_005264785.1:c.115-10134C>T	XP_005264842.1:n.115-10134C>T
XM_005264786.1:c.-9-10134C>T	XP_005264843.1:n.-9-10134C>T
XM_005264787.1:c.-9-10134C>T	XP_005264844.1:n.-9-10134C>T
XM_006712916.1:c.1162-10134C>T	XP_006712979.1:n.1162-10134C>T
XR_940359.1:n.1812-10134C>T
XR_940360.1:n.1812-10134C>T
NM_001349190.1:c.-9-10134C>T	NP_001336119.1:n.-9-10134C>T
NM_001349191.1:c.-9-10134C>T	NP_001336120.1:n.-9-10134C>T
NM_001349192.1:c.-294-8605C>T	NP_001336121.1:n.-294-8605C>T
NM_001349193.1:c.-176-9049C>T	NP_001336122.1:n.-176-9049C>T
NM_001349194.1:c.16-10134C>T	NP_001336123.1:n.16-10134C>T
NR_146071.1:n.293-16224C>T
XM_017005496.2:c.1558-10134C>T	XP_016860985.2:n.1558-10134C>T
XM_017005497.1:c.103-10134C>T	XP_016860986.1:n.103-10134C>T
XM_017005500.2:c.-176-9049C>T	XP_016860989.1:n.-176-9049C>T
XM_017005501.2:c.-127-8605C>T	XP_016860990.1:n.-127-8605C>T
XM_017005502.1:c.-9-10134C>T	XP_016860991.1:n.-9-10134C>T
XM_024453288.1:c.-294-8605C>T	XP_024309056.1:n.-294-8605C>T
XR_001739975.2:n.1703-10134C>T
XR_002959486.1:n.1703-8605C>T
NM_005777.3:c.1558-10134C>T MANE Select	NP_005768.1:n.1558-10134C>T
NM_001167582.2:c.-9-10134C>T	NP_001161054.1:n.-9-10134C>T
NM_001349190.2:c.-9-10134C>T	NP_001336119.1:n.-9-10134C>T
NM_001349191.2:c.-9-10134C>T	NP_001336120.1:n.-9-10134C>T
NM_001349192.2:c.-294-8605C>T	NP_001336121.1:n.-294-8605C>T
NM_001349193.2:c.-176-9049C>T	NP_001336122.1:n.-176-9049C>T
NM_001349194.2:c.16-10134C>T	NP_001336123.1:n.16-10134C>T
NR_146071.2:n.187-16224C>T