Canonical Allele Identifier: CA3515706
Gene: GPX3 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

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