Canonical Allele Identifier: CA208683042

Gene: REEP3

Linked Data

• dbSNP Id: rs10822184
• gnomAD v2: 10-65337153-T-G
• gnomAD v3: 10-63577393-T-G
• gnomAD v4: 10-63577393-T-G
• MyVariant Identifiers: chr10:g.65337153T>G (hg19) ; chr10:g.63577393T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.63577393T>G , CM000672.2:g.63577393T>G	GRCh38
NC_000010.10:g.65337153T>G , CM000672.1:g.65337153T>G	GRCh37
NC_000010.9:g.65007159T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000373758.5:c.105+10983T>G MANE Select	ENSP00000362863.4:n.105+10983T>G
ENST00000373758.4:c.105+10983T>G	ENSP00000362863.4:n.105+10983T>G
NM_001001330.2:c.105+10983T>G	NP_001001330.1:n.105+10983T>G
XM_011539501.1:c.105+10983T>G	XP_011537803.1:n.105+10983T>G
XM_011539501.2:c.105+10983T>G	XP_011537803.1:n.105+10983T>G
XM_017015896.1:c.105+10983T>G	XP_016871385.1:n.105+10983T>G
NM_001001330.3:c.105+10983T>G MANE Select	NP_001001330.1:n.105+10983T>G