Canonical Allele Identifier: CA115274
Gene: ERMAP HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42830821G>A
GRCh37 chr1:g.43296492G>A
Revel Score:
ENST00000372517 (MANE Select) 0.066
ENST00000372514 0.066
gnomAD v2:
1:43296492 G / A
gnomAD v3:
1:42830821 G / A
gnomAD v4:
chr1-42830821-G-A
Joint Max Group AF 0.00172422 (AMR)
Genomes Max Group AF 0.00318725 (AMR)
Exomes Max Group AF 0.00099844 (AMR)
ClinVar RCV:
RCV000001995
ClinVar Variation:
1918
dbSNP:
56047316
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42830821G>A , CM000663.2:g.42830821G>A GRCh38
NC_000001.10:g.43296492G>A , CM000663.1:g.43296492G>A GRCh37
NC_000001.9:g.43069079G>A NCBI36
NG_008749.1:g.18717G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372517.8:c.139G>A MANE Select ENSP00000361595.2:p.Glu47Lys
ENST00000487556.6:n.452-4217G>A
ENST00000642150.1:n.326G>A
ENST00000647120.1:n.248-4217G>A
ENST00000328249.3:c.-132G>A ENSP00000332439.3:n.-132G>A
ENST00000372514.7:c.139G>A ENSP00000361592.3:p.Glu47Lys
ENST00000372517.6:c.139G>A ENSP00000361595.2:p.Glu47Lys
ENST00000487556.5:n.247-4217G>A
NM_001017922.1:c.139G>A NP_001017922.1:p.Glu47Lys
NM_018538.3:c.139G>A NP_061008.2:p.Glu47Lys
XM_006710313.2:c.139G>A XP_006710376.1:p.Glu47Lys
XM_011540570.1:c.139G>A XP_011538872.1:p.Glu47Lys
XM_011540571.1:c.139G>A XP_011538873.1:p.Glu47Lys
XM_006710313.4:c.139G>A XP_006710376.1:p.Glu47Lys
XM_011540570.3:c.139G>A XP_011538872.1:p.Glu47Lys
XM_011540571.3:c.139G>A XP_011538873.1:p.Glu47Lys
NM_001017922.2:c.139G>A MANE Select NP_001017922.1:p.Glu47Lys
NM_018538.4:c.139G>A NP_061008.2:p.Glu47Lys
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