Canonical Allele Identifier: CA3999410
MyVariant.info:
Revel Score:
gnomAD v4:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583862G>A , CM000668.2:g.131583862G>A GRCh38
NC_000006.11:g.131905002G>A , CM000668.1:g.131905002G>A GRCh37
NC_000006.10:g.131946695G>A NCBI36
NG_007086.2:g.15638G>A
NG_031860.1:g.49362C>T
NG_031860.2:g.49362C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.923G>A (ARG1) MANE Select ENSP00000357066.3:p.Arg308Gln
ENST00000640973.1:c.665G>A (ARG1) ENSP00000492623.1:p.Arg222Gln
ENST00000672233.1:c.869G>A (ARG1) ENSP00000499826.1:p.Arg290Gln
ENST00000673234.1:c.*810G>A (ARG1) ENSP00000499885.1:n.*810G>A
ENST00000673427.1:c.668G>A (ARG1) ENSP00000500160.1:p.Arg223Gln
ENST00000354577.8:c.4095+3847C>T (MED23) ENSP00000346588.4:n.4095+3847C>T
ENST00000356962.2:c.947G>A (ARG1) ENSP00000349446.2:p.Arg316Gln
ENST00000368087.7:c.923G>A (ARG1) ENSP00000357066.3:p.Arg308Gln
NM_000045.3:c.923G>A (ARG1) NP_000036.2:p.Arg308Gln
NM_001244438.1:c.947G>A (ARG1) NP_001231367.1:p.Arg316Gln
NM_001270521.1:c.4077+3847C>T (MED23) NP_001257450.1:n.4077+3847C>T
NM_015979.3:c.4095+3847C>T (MED23) NP_057063.2:n.4095+3847C>T
XM_011535801.1:c.668G>A (ARG1) XP_011534103.1:p.Arg223Gln
XM_011535801.2:c.668G>A (ARG1) XP_011534103.1:p.Arg223Gln
NM_000045.4:c.923G>A (ARG1) MANE Select NP_000036.2:p.Arg308Gln
NM_001244438.2:c.947G>A (ARG1) NP_001231367.1:p.Arg316Gln
NM_001270521.2:c.4077+3847C>T (MED23) NP_001257450.1:n.4077+3847C>T
NM_001369020.1:c.668G>A (ARG1) NP_001355949.1:p.Arg223Gln
NM_015979.4:c.4095+3847C>T (MED23) NP_057063.2:n.4095+3847C>T
NR_160934.1:n.907G>A (ARG1)