Canonical Allele Identifier: CA361097012
Gene: EGR1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.138465844C>A
GRCh37 chr5:g.137801533C>A
Revel Score:
ENST00000535792 0.083
ENST00000411801 0.083
ENST00000239938 (MANE Select) 0.083
dbSNP:
13181973
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138465844C>A , CM000667.2:g.138465844C>A GRCh38
NC_000005.9:g.137801533C>A , CM000667.1:g.137801533C>A GRCh37
NC_000005.8:g.137829432C>A NCBI36
NG_021374.1:g.5353C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239938.5:c.83C>A MANE Select ENSP00000239938.4:p.Thr28Asn
ENST00000239938.4:c.83C>A ENSP00000239938.4:p.Thr28Asn
NM_001964.2:c.83C>A NP_001955.1:p.Thr28Asn
NM_001964.3:c.83C>A MANE Select NP_001955.1:p.Thr28Asn
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