Canonical Allele Identifier: CA1459755556

Gene: REST

Linked Data

• dbSNP Id: rs1720385790
• gnomAD v3: 4-56920241-A-C
• gnomAD v4: 4-56920241-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.56920241A>C , CM000666.2:g.56920241A>C	GRCh38
NC_000004.11:g.57786407A>C , CM000666.1:g.57786407A>C	GRCh37
NC_000004.10:g.57481164A>C	NCBI36
NG_029447.1:g.17366A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309042.12:c.982+371A>C MANE Select	ENSP00000311816.7:n.982+371A>C
ENST00000514063.2:c.982+371A>C	ENSP00000501649.1:n.982+371A>C
ENST00000611211.2:c.982+371A>C	ENSP00000479151.2:n.982+371A>C
ENST00000616975.5:c.982+371A>C	ENSP00000484058.1:n.982+371A>C
ENST00000619101.5:c.982+371A>C	ENSP00000484836.2:n.982+371A>C
ENST00000638187.2:c.898+8705A>C	ENSP00000492006.2:n.898+8705A>C
ENST00000640168.2:c.898+8705A>C	ENSP00000490969.1:n.898+8705A>C
ENST00000640343.2:c.982+371A>C	ENSP00000492813.1:n.982+371A>C
ENST00000675105.1:c.982+371A>C	ENSP00000502313.1:n.982+371A>C
ENST00000675341.1:c.535+371A>C	ENSP00000502488.1:n.535+371A>C
ENST00000309042.11:c.982+371A>C	ENSP00000311816.7:n.982+371A>C
ENST00000514063.1:n.409+371A>C
ENST00000611211.1:c.982+371A>C	ENSP00000479151.1:n.982+371A>C
ENST00000612429.4:c.982+371A>C	ENSP00000484206.1:n.982+371A>C
ENST00000616975.4:c.982+371A>C	ENSP00000484058.1:n.982+371A>C
ENST00000619101.4:c.982+371A>C	ENSP00000484836.1:n.982+371A>C
ENST00000622863.4:c.586+371A>C	ENSP00000481650.1:n.586+371A>C
NM_001193508.1:c.982+371A>C	NP_001180437.1:n.982+371A>C
NM_005612.4:c.982+371A>C	NP_005603.3:n.982+371A>C
XM_005265760.2:c.16+371A>C	XP_005265817.1:n.16+371A>C
XM_011534401.1:c.982+371A>C	XP_011532703.1:n.982+371A>C
NM_001363453.1:c.982+371A>C	NP_001350382.1:n.982+371A>C
XM_017008527.1:c.898+8705A>C	XP_016864016.1:n.898+8705A>C
NM_005612.5:c.982+371A>C MANE Select	NP_005603.3:n.982+371A>C
NM_001363453.2:c.982+371A>C	NP_001350382.1:n.982+371A>C