Canonical Allele Identifier: CA7333963

Gene: GLRX5

Linked Data

• ClinVar Variation Id: 380169
• ClinVar RCV Id: RCV000433309 ; RCV002062295
• dbSNP Id: rs141867720
• ExAC: 14:96010423 C / T
• gnomAD v2: 14-96010423-C-T
• gnomAD v3: 14-95544086-C-T
• gnomAD v4: 14-95544086-C-T
• MyVariant Identifiers: chr14:g.96010423C>T (hg19) ; chr14:g.95544086C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.95544086C>T , CM000676.2:g.95544086C>T	GRCh38
NC_000014.8:g.96010423C>T , CM000676.1:g.96010423C>T	GRCh37
NC_000014.7:g.95080176C>T	NCBI36
NG_021217.1:g.14101C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331334.5:c.435C>T MANE Select	ENSP00000328570.4:p.Ser145=
ENST00000331334.4:c.435C>T	ENSP00000328570.4:p.Ser145=
ENST00000553672.1:n.441C>T
ENST00000557731.1:c.1225C>T
NM_016417.2:c.435C>T	NP_057501.2:p.Ser145=
NM_016417.3:c.435C>T MANE Select	NP_057501.2:p.Ser145=