Canonical Allele Identifier: CA3429995
Gene: EGR1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.138465910G>A
GRCh37 chr5:g.137801599G>A
Revel Score:
ENST00000535792 0.102
ENST00000411801 0.102
ENST00000239938 (MANE Select) 0.102
ClinVar RCV:
RCV004146482
ClinVar Variation:
2292930
dbSNP:
747666166
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138465910G>A , CM000667.2:g.138465910G>A GRCh38
NC_000005.9:g.137801599G>A , CM000667.1:g.137801599G>A GRCh37
NC_000005.8:g.137829498G>A NCBI36
NG_021374.1:g.5419G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239938.5:c.149G>A MANE Select ENSP00000239938.4:p.Gly50Asp
ENST00000239938.4:c.149G>A ENSP00000239938.4:p.Gly50Asp
NM_001964.2:c.149G>A NP_001955.1:p.Gly50Asp
NM_001964.3:c.149G>A MANE Select NP_001955.1:p.Gly50Asp
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