Canonical Allele Identifier: CA594068298

Gene: REEP3

Linked Data

• dbSNP Id: rs998380089
• gnomAD v2: 10-65337235-G-T
• gnomAD v3: 10-63577475-G-T
• gnomAD v4: 10-63577475-G-T
• MyVariant Identifiers: chr10:g.65337235G>T (hg19) ; chr10:g.63577475G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.63577475G>T , CM000672.2:g.63577475G>T	GRCh38
NC_000010.10:g.65337235G>T , CM000672.1:g.65337235G>T	GRCh37
NC_000010.9:g.65007241G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000373758.5:c.105+11065G>T MANE Select	ENSP00000362863.4:n.105+11065G>T
ENST00000373758.4:c.105+11065G>T	ENSP00000362863.4:n.105+11065G>T
NM_001001330.2:c.105+11065G>T	NP_001001330.1:n.105+11065G>T
XM_011539501.1:c.105+11065G>T	XP_011537803.1:n.105+11065G>T
XM_011539501.2:c.105+11065G>T	XP_011537803.1:n.105+11065G>T
XM_017015896.1:c.105+11065G>T	XP_016871385.1:n.105+11065G>T
NM_001001330.3:c.105+11065G>T MANE Select	NP_001001330.1:n.105+11065G>T