Canonical Allele Identifier: CA356791701
Community Standard Title: NM_001080476.3(GRXCR1):c.697G>A (p.Val233Ile)
Gene: GRXCR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.43030364G>A , CM000666.2:g.43030364G>A GRCh38
NC_000004.11:g.43032381G>A , CM000666.1:g.43032381G>A GRCh37
NC_000004.10:g.42727138G>A NCBI36
NG_027718.1:g.142099G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001080476.3:c.697G>A MANE Select NP_001073945.1:p.Val233Ile
ENST00000399770.3:c.697G>A MANE Select ENSP00000382670.2:p.Val233Ile
NM_001080476.2:c.697G>A NP_001073945.1:p.Val233Ile
ENST00000399770.2:c.697G>A ENSP00000382670.2:p.Val233Ile
XM_011513691.1:c.334G>A XP_011511993.1:p.Val112Ile