Canonical Allele Identifier: CA594068299
Gene: REEP3 HGNC NCBI

Linked Data

dbSNP Id: rs1289049539
gnomAD v2: 10-65337236-T-C
gnomAD v3: 10-63577476-T-C
gnomAD v4: 10-63577476-T-C
MyVariant Identifiers: chr10:g.65337236T>C (hg19) chr10:g.63577476T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.63577476T>C , CM000672.2:g.63577476T>C GRCh38
NC_000010.10:g.65337236T>C , CM000672.1:g.65337236T>C GRCh37
NC_000010.9:g.65007242T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000373758.5:c.105+11066T>C MANE Select ENSP00000362863.4:n.105+11066T>C
ENST00000373758.4:c.105+11066T>C ENSP00000362863.4:n.105+11066T>C
NM_001001330.2:c.105+11066T>C NP_001001330.1:n.105+11066T>C
XM_011539501.1:c.105+11066T>C XP_011537803.1:n.105+11066T>C
XM_011539501.2:c.105+11066T>C XP_011537803.1:n.105+11066T>C
XM_017015896.1:c.105+11066T>C XP_016871385.1:n.105+11066T>C
NM_001001330.3:c.105+11066T>C MANE Select NP_001001330.1:n.105+11066T>C
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