Canonical Allele Identifier: CA3515707
Gene: GPX3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.151027895T>A
GRCh37 chr5:g.150407456T>A
Revel Score:
ENST00000520059 0.011
gnomAD v2:
5:150407456 T / A
gnomAD v4:
chr5-151027895-T-A
Joint Max Group AF 0.00001327 (AMR)
Exomes Max Group AF 0.00001779 (AMR)
dbSNP:
8177447
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151027895T>A , CM000667.2:g.151027895T>A GRCh38
NC_000005.9:g.150407456T>A , CM000667.1:g.150407456T>A GRCh37
NC_000005.8:g.150387649T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000388825.9:c.460-14T>A MANE Select ENSP00000373477.4:n.460-14T>A
ENST00000388825.8:c.460-14T>A ENSP00000373477.4:n.460-14T>A
ENST00000517973.1:c.*3-14T>A ENSP00000429709.1:n.*3-14T>A
ENST00000520059.1:c.226T>A
ENST00000521632.1:c.269-14T>A
ENST00000614343.4:c.*241-14T>A ENSP00000483660.1:n.*241-14T>A
ENST00000622181.4:c.457-14T>A ENSP00000484258.1:n.457-14T>A
NM_002084.3:c.460-14T>A NP_002075.2:n.460-14T>A
NM_001329790.1:c.487-14T>A NP_001316719.1:n.487-14T>A
NM_002084.4:c.460-14T>A NP_002075.2:n.460-14T>A
NM_002084.5:c.460-14T>A MANE Select NP_002075.2:n.460-14T>A
NM_001329790.2:c.487-14T>A NP_001316719.1:n.487-14T>A
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