Canonical Allele Identifier: CA15261931

Gene: RBM6

Linked Data

• dbSNP Id: rs6762477
• gnomAD v2: 3-50093209-G-A
• gnomAD v3: 3-50055776-G-A
• gnomAD v4: 3-50055776-G-A
• MyVariant Identifiers: chr3:g.50093209G>A (hg19) ; chr3:g.50055776G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50055776G>A , CM000665.2:g.50055776G>A	GRCh38
NC_000003.11:g.50093209G>A , CM000665.1:g.50093209G>A	GRCh37
NC_000003.10:g.50068213G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266022.9:c.1693+1381G>A MANE Select	ENSP00000266022.4:n.1693+1381G>A
ENST00000266022.8:c.1693+1381G>A	ENSP00000266022.4:n.1693+1381G>A
ENST00000419610.5:c.105+1381G>A	ENSP00000396410.1:n.105+1381G>A
ENST00000422955.5:c.127+1381G>A	ENSP00000392939.1:n.127+1381G>A
ENST00000425608.5:c.*56+1381G>A	ENSP00000408665.1:n.*56+1381G>A
ENST00000434592.5:c.127+1381G>A	ENSP00000399942.1:n.127+1381G>A
ENST00000441115.5:n.632+1381G>A
ENST00000442092.5:c.127+1381G>A	ENSP00000393530.1:n.127+1381G>A
ENST00000443081.5:c.1297+1381G>A	ENSP00000396466.1:n.1297+1381G>A
ENST00000446471.1:c.127+1381G>A	ENSP00000394336.1:n.127+1381G>A
ENST00000454079.5:c.1297+1381G>A	ENSP00000406548.1:n.1297+1381G>A
ENST00000464013.5:n.318+1381G>A
ENST00000466247.1:n.380+1381G>A
ENST00000483350.1:n.198+1381G>A
NM_001167582.1:c.127+1381G>A	NP_001161054.1:n.127+1381G>A
NM_005777.2:c.1693+1381G>A	NP_005768.1:n.1693+1381G>A
XM_005264784.1:c.1297+1381G>A	XP_005264841.1:n.1297+1381G>A
XM_005264785.1:c.250+1381G>A	XP_005264842.1:n.250+1381G>A
XM_005264786.1:c.127+1381G>A	XP_005264843.1:n.127+1381G>A
XM_005264787.1:c.127+1381G>A	XP_005264844.1:n.127+1381G>A
XM_005264788.1:c.127+1381G>A	XP_005264845.1:n.127+1381G>A
XM_006712916.1:c.1297+1381G>A	XP_006712979.1:n.1297+1381G>A
XR_940359.1:n.1947+1381G>A
XR_940360.1:n.1947+1381G>A
NM_001349190.1:c.127+1381G>A	NP_001336119.1:n.127+1381G>A
NM_001349191.1:c.127+1381G>A	NP_001336120.1:n.127+1381G>A
NM_001349192.1:c.127+1381G>A	NP_001336121.1:n.127+1381G>A
NM_001349193.1:c.127+1381G>A	NP_001336122.1:n.127+1381G>A
NM_001349194.1:c.151+1381G>A	NP_001336123.1:n.151+1381G>A
NR_146071.1:n.353+1381G>A
XM_017005496.2:c.1693+1381G>A	XP_016860985.2:n.1693+1381G>A
XM_017005497.1:c.238+1381G>A	XP_016860986.1:n.238+1381G>A
XM_017005500.2:c.127+1381G>A	XP_016860989.1:n.127+1381G>A
XM_017005501.2:c.127+1381G>A	XP_016860990.1:n.127+1381G>A
XM_017005502.1:c.127+1381G>A	XP_016860991.1:n.127+1381G>A
XM_024453288.1:c.127+1381G>A	XP_024309056.1:n.127+1381G>A
XR_001739975.2:n.1838+1381G>A
XR_002959486.1:n.1956+1381G>A
NM_005777.3:c.1693+1381G>A MANE Select	NP_005768.1:n.1693+1381G>A
NM_001167582.2:c.127+1381G>A	NP_001161054.1:n.127+1381G>A
NM_001349190.2:c.127+1381G>A	NP_001336119.1:n.127+1381G>A
NM_001349191.2:c.127+1381G>A	NP_001336120.1:n.127+1381G>A
NM_001349192.2:c.127+1381G>A	NP_001336121.1:n.127+1381G>A
NM_001349193.2:c.127+1381G>A	NP_001336122.1:n.127+1381G>A
NM_001349194.2:c.151+1381G>A	NP_001336123.1:n.151+1381G>A
NR_146071.2:n.247+1381G>A