Canonical Allele Identifier: CA12676701
Gene: GIMAP5 HGNC NCBI
GIMAP1-GIMAP5 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150743561G>A
GRCh37 chr7:g.150440649G>A
gnomAD v2:
7:150440649 G / A
gnomAD v3:
7:150743561 G / A
gnomAD v4:
chr7-150743561-G-A
Joint Max Group AF 0.54715504 (AFR)
Genomes Max Group AF 0.54721985 (AFR)
Exomes Max Group AF 0.22047059 (NFE)
dbSNP:
6598
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150743561G>A , CM000669.2:g.150743561G>A GRCh38
NC_000007.13:g.150440649G>A , CM000669.1:g.150440649G>A GRCh37
NC_000007.12:g.150071582G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000358647.5:c.*498G>A (GIMAP5) MANE Select ENSP00000351473.3:n.*498G>A
ENST00000358647.4:c.*498G>A (GIMAP5) ENSP00000351473.3:n.*498G>A
ENST00000466347.5:n.131+2634G>A (GIMAP5)
ENST00000476324.1:n.4697G>A (GIMAP5)
ENST00000479556.1:n.1470G>A (GIMAP5)
ENST00000498181.6:c.*498G>A (GIMAP5) ENSP00000487840.2:n.*498G>A
ENST00000611999.4:c.*498G>A (GIMAP1-GIMAP5) ENSP00000477920.1:n.*498G>A
NM_001199577.1:c.*498G>A (GIMAP1-GIMAP5) NP_001186506.1:n.*498G>A
NM_001303630.1:c.*498G>A (GIMAP1-GIMAP5) NP_001290559.1:n.*498G>A
NM_018384.4:c.*498G>A (GIMAP5) NP_060854.2:n.*498G>A
NM_001199577.2:c.*498G>A (GIMAP1-GIMAP5) NP_001186506.1:n.*498G>A
NM_001303630.2:c.*498G>A (GIMAP1-GIMAP5) NP_001290559.1:n.*498G>A
NM_018384.5:c.*498G>A (GIMAP5) MANE Select NP_060854.2:n.*498G>A
Search 100 bp 5'
Search 100 bp 3'