Canonical Allele Identifier: CA8566264
Gene: FKBP10 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.41818217G>A
GRCh37 chr17:g.39974469G>A
Revel Score:
ENST00000269598 0.126
ENST00000321562 (MANE Select) 0.126
ENST00000414352 0.126
gnomAD v2:
17:39974469 G / A
gnomAD v3:
17:41818217 G / A
gnomAD v4:
chr17-41818217-G-A
Joint Max Group AF 0.00013403 (MID)
Genomes Max Group AF 0.00006803 (NFE)
Exomes Max Group AF 0.00014138 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41818217G>A , CM000679.2:g.41818217G>A GRCh38
NC_000017.10:g.39974469G>A , CM000679.1:g.39974469G>A GRCh37
NC_000017.9:g.37227995G>A NCBI36
NG_015860.1:g.10508G>A , LRG_12:g.10508G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706683.1:c.520G>A ENSP00000516497.1:p.Gly174Ser
ENST00000321562.9:c.520G>A MANE Select ENSP00000317232.4:p.Gly174Ser
ENST00000321562.8:c.520G>A ENSP00000317232.4:p.Gly174Ser
ENST00000489591.5:c.374G>A ENSP00000466352.1:p.Arg125Gln
ENST00000585664.5:c.340G>A ENSP00000468703.1:p.Gly114Ser
NM_021939.3:c.520G>A , LRG_12t1:c.520G>A NP_068758.3:p.Gly174Ser
XM_011525099.1:c.520G>A XP_011523401.1:p.Gly174Ser
XM_011525100.1:c.247G>A XP_011523402.1:p.Gly83Ser
XM_011525099.3:c.520G>A XP_011523401.1:p.Gly174Ser
XM_011525100.2:c.247G>A XP_011523402.1:p.Gly83Ser
NM_021939.4:c.520G>A MANE Select NP_068758.3:p.Gly174Ser
Search 100 bp 5'
Search 100 bp 3'