Canonical Allele Identifier: CA356791705
Community Standard Title: NM_001080476.3(GRXCR1):c.700C>A (p.Gln234Lys)
Gene: GRXCR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.43030367C>A , CM000666.2:g.43030367C>A GRCh38
NC_000004.11:g.43032384C>A , CM000666.1:g.43032384C>A GRCh37
NC_000004.10:g.42727141C>A NCBI36
NG_027718.1:g.142102C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001080476.3:c.700C>A MANE Select NP_001073945.1:p.Gln234Lys
ENST00000399770.3:c.700C>A MANE Select ENSP00000382670.2:p.Gln234Lys
NM_001080476.2:c.700C>A NP_001073945.1:p.Gln234Lys
ENST00000399770.2:c.700C>A ENSP00000382670.2:p.Gln234Lys
XM_011513691.1:c.337C>A XP_011511993.1:p.Gln113Lys