Canonical Allele Identifier: CA5104589
Gene: RMI1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.84002350A>G
GRCh37 chr9:g.86617265A>G
Revel Score:
ENST00000325875 0.012
gnomAD v2:
9:86617265 A / G
gnomAD v3:
9:84002350 A / G
gnomAD v4:
chr9-84002350-A-G
Joint Max Group AF 0.82527423 (AMR)
Genomes Max Group AF 0.77251679 (AMR)
Exomes Max Group AF 0.84052934 (AMR)
ClinVar RCV:
RCV003982322
ClinVar Variation:
3060293
dbSNP:
1982151
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.84002350A>G , CM000671.2:g.84002350A>G GRCh38
NC_000009.11:g.86617265A>G , CM000671.1:g.86617265A>G GRCh37
NC_000009.10:g.85807085A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000445877.6:c.1364A>G MANE Select ENSP00000402433.2:p.Asn455Ser
ENST00000325875.7:c.1364A>G ENSP00000317039.3:p.Asn455Ser
ENST00000615118.1:c.1363A>G ENSP00000483816.1:p.Ile455Val
NM_024945.2:c.1364A>G NP_079221.2:p.Asn455Ser
XM_005252211.1:c.1364A>G XP_005252268.1:p.Asn455Ser
XM_005252213.1:c.1364A>G XP_005252270.1:p.Asn455Ser
XM_011519034.1:c.1364A>G XP_011517336.1:p.Asn455Ser
NM_001358291.1:c.1364A>G NP_001345220.1:p.Asn455Ser
NM_001358292.1:c.1364A>G NP_001345221.1:p.Asn455Ser
NM_001358293.1:c.1364A>G NP_001345222.1:p.Asn455Ser
NM_001358294.1:c.1364A>G NP_001345223.1:p.Asn455Ser
XM_017015140.1:c.1364A>G XP_016870629.1:p.Asn455Ser
NM_001358291.2:c.1364A>G MANE Select NP_001345220.1:p.Asn455Ser
NM_001358292.2:c.1364A>G NP_001345221.1:p.Asn455Ser
NM_001358293.2:c.1364A>G NP_001345222.1:p.Asn455Ser
NM_024945.3:c.1364A>G NP_079221.2:p.Asn455Ser
NM_001358294.2:c.1364A>G NP_001345223.1:p.Asn455Ser
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