Canonical Allele Identifier: CA1744408
Gene: GNLY HGNC NCBI
COSMIC:
COSM3758398 (not active)
COSM5428112 (not active)
MyVariant.info:
GRCh38 chr2:g.85697606C>T
GRCh37 chr2:g.85924729C>T
Revel Score:
ENST00000526018 0.011
ENST00000263863 (MANE Select) 0.049
ENST00000524600 0.049
ENST00000409696 0.049
gnomAD v2:
2:85924729 C / T
gnomAD v3:
2:85697606 C / T
gnomAD v4:
chr2-85697606-C-T
Joint Max Group AF 0.57803062 (EAS)
Genomes Max Group AF 0.56786345 (EAS)
Exomes Max Group AF 0.57748793 (EAS)
dbSNP:
11127
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85697606C>T , CM000664.2:g.85697606C>T GRCh38
NC_000002.11:g.85924729C>T , CM000664.1:g.85924729C>T GRCh37
NC_000002.10:g.85778240C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000263863.9:c.356C>T MANE Select ENSP00000263863.5:p.Thr119Ile
ENST00000263863.8:c.356C>T ENSP00000263863.4:p.Thr119Ile
ENST00000409696.7:c.311C>T ENSP00000387116.3:p.Thr104Ile
ENST00000489980.5:n.1800C>T
ENST00000524600.5:c.437C>T ENSP00000436423.1:p.Thr146Ile
ENST00000526018.1:c.256C>T
NM_001302758.1:c.437C>T NP_001289687.1:p.Thr146Ile
NM_006433.4:c.356C>T NP_006424.2:p.Thr119Ile
NM_012483.3:c.311C>T NP_036615.2:p.Thr104Ile
XM_005264084.2:c.337-958C>T XP_005264141.1:n.337-958C>T
XM_005264085.2:c.256-958C>T XP_005264142.1:n.256-958C>T
XM_005264087.2:c.211-958C>T XP_005264144.1:n.211-958C>T
NM_001302758.2:c.437C>T NP_001289687.1:p.Thr146Ile
NM_006433.5:c.356C>T MANE Select NP_006424.2:p.Thr119Ile
NM_012483.4:c.311C>T NP_036615.2:p.Thr104Ile
Search 100 bp 5'
Search 100 bp 3'