Canonical Allele Identifier: CA176270
Gene: GRXCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 163654
ClinVar RCV Id: RCV000150802
dbSNP Id: rs727503088
gnomAD v3: 4-42893562-T-C
gnomAD v4: 4-42893562-T-C
MyVariant Identifiers: chr4:g.42895579T>C (hg19) chr4:g.42893562T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42893562T>C , CM000666.2:g.42893562T>C GRCh38
NC_000004.11:g.42895579T>C , CM000666.1:g.42895579T>C GRCh37
NC_000004.10:g.42590336T>C NCBI36
NG_027718.1:g.5297T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.296T>C MANE Select ENSP00000382670.2:p.Ile99Thr
ENST00000399770.2:c.296T>C ENSP00000382670.2:p.Ile99Thr
NM_001080476.2:c.296T>C NP_001073945.1:p.Ile99Thr
NM_001080476.3:c.296T>C MANE Select NP_001073945.1:p.Ile99Thr
Search 100 bp 5'
Search 100 bp 3'