Canonical Allele Identifier: CA2904431
Gene: GRXCR1 HGNC NCBI

Linked Data

dbSNP Id: rs769323897
ExAC: 4:42965072 A / C
gnomAD v2: 4-42965072-A-C
gnomAD v4: 4-42963055-A-C
MyVariant Identifiers: chr4:g.42965072A>C (hg19) chr4:g.42963055A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42963055A>C , CM000666.2:g.42963055A>C GRCh38
NC_000004.11:g.42965072A>C , CM000666.1:g.42965072A>C GRCh37
NC_000004.10:g.42659829A>C NCBI36
NG_027718.1:g.74790A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.548A>C MANE Select ENSP00000382670.2:p.Lys183Thr
ENST00000399770.2:c.548A>C ENSP00000382670.2:p.Lys183Thr
NM_001080476.2:c.548A>C NP_001073945.1:p.Lys183Thr
XM_011513691.1:c.185A>C XP_011511993.1:p.Lys62Thr
NM_001080476.3:c.548A>C MANE Select NP_001073945.1:p.Lys183Thr
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