Canonical Allele Identifier: CA229017880

Gene: RDX

Linked Data

• dbSNP Id: rs535308086
• gnomAD v2: 11-110128775-G-A
• gnomAD v3: 11-110258050-G-A
• gnomAD v4: 11-110258050-G-A
• MyVariant Identifiers: chr11:g.110128775G>A (hg19) ; chr11:g.110258050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.110258050G>A , CM000673.2:g.110258050G>A	GRCh38
NC_000011.9:g.110128775G>A , CM000673.1:g.110128775G>A	GRCh37
NC_000011.8:g.109633985G>A	NCBI36
NG_023044.1:g.43663C>T
NG_023044.2:g.43663C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000645495.2:c.551+56C>T MANE Select	ENSP00000496503.2:n.551+56C>T
ENST00000645527.1:c.551+56C>T	ENSP00000496121.1:n.551+56C>T
ENST00000646663.1:c.551+56C>T	ENSP00000494693.1:n.551+56C>T
ENST00000647231.1:c.551+56C>T	ENSP00000496414.1:n.551+56C>T
ENST00000343115.8:c.551+56C>T	ENSP00000342830.4:n.551+56C>T
ENST00000405097.5:c.551+56C>T	ENSP00000384136.1:n.551+56C>T
ENST00000528498.5:c.551+56C>T	ENSP00000432112.1:n.551+56C>T
ENST00000528900.5:c.-82-10217C>T	ENSP00000433580.1:n.-82-10217C>T
ENST00000529774.1:n.103+56C>T
ENST00000530131.5:c.*21+56C>T	ENSP00000432829.1:n.*21+56C>T
ENST00000530301.5:c.404+107C>T	ENSP00000436277.1:n.404+107C>T
ENST00000530749.5:c.551+56C>T	ENSP00000437301.1:n.551+56C>T
ENST00000534683.1:c.8+56C>T	ENSP00000431560.1:n.8+56C>T
ENST00000544551.5:c.143+56C>T	ENSP00000445826.1:n.143+56C>T
NM_001260492.1:c.551+56C>T	NP_001247421.1:n.551+56C>T
NM_001260493.1:c.551+56C>T	NP_001247422.1:n.551+56C>T
NM_001260494.1:c.143+56C>T	NP_001247423.1:n.143+56C>T
NM_001260495.1:c.-82-10217C>T	NP_001247424.1:n.-82-10217C>T
NM_001260496.1:c.404+107C>T	NP_001247425.1:n.404+107C>T
NM_002906.3:c.551+56C>T	NP_002897.1:n.551+56C>T
NM_001260492.2:c.551+56C>T	NP_001247421.1:n.551+56C>T
NM_002906.4:c.551+56C>T MANE Select	NP_002897.1:n.551+56C>T
NM_001260493.2:c.551+56C>T	NP_001247422.1:n.551+56C>T
NM_001260494.2:c.143+56C>T	NP_001247423.1:n.143+56C>T
NM_001260495.2:c.-82-10217C>T	NP_001247424.1:n.-82-10217C>T
NM_001260496.2:c.404+107C>T	NP_001247425.1:n.404+107C>T