Canonical Allele Identifier: CA356792328
Gene: GRXCR1 HGNC NCBI

Linked Data

gnomAD v4: 4-42963009-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42963009G>T , CM000666.2:g.42963009G>T GRCh38
NC_000004.11:g.42965026G>T , CM000666.1:g.42965026G>T GRCh37
NC_000004.10:g.42659783G>T NCBI36
NG_027718.1:g.74744G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.502G>T MANE Select ENSP00000382670.2:p.Val168Leu
ENST00000399770.2:c.502G>T ENSP00000382670.2:p.Val168Leu
NM_001080476.2:c.502G>T NP_001073945.1:p.Val168Leu
XM_011513691.1:c.139G>T XP_011511993.1:p.Val47Leu
NM_001080476.3:c.502G>T MANE Select NP_001073945.1:p.Val168Leu