Canonical Allele Identifier: CA452147637

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131576668A>G , CM000668.2:g.131576668A>G GRCh38
NC_000006.11:g.131897808A>G , CM000668.1:g.131897808A>G GRCh37
NC_000006.10:g.131939501A>G NCBI36
NG_007086.2:g.8444A>G
NG_031860.1:g.56556T>C
NG_031860.2:g.56556T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.63A>G (ARG1) MANE Select ENSP00000357066.3:p.Arg21=
ENST00000640973.1:c.63A>G (ARG1) ENSP00000492623.1:p.Arg21=
ENST00000672052.1:n.310A>G (ARG1)
ENST00000672233.1:c.77-2443A>G (ARG1) ENSP00000499826.1:n.77-2443A>G
ENST00000673234.1:c.82A>G (ARG1) ENSP00000499885.1:p.Arg28Gly
ENST00000673427.1:c.63A>G (ARG1) ENSP00000500160.1:p.Arg21=
ENST00000275196.5:n.115-2443A>G (ARG1)
ENST00000354577.8:c.4096-2373T>C (MED23) ENSP00000346588.4:n.4096-2373T>C
ENST00000356962.2:c.63A>G (ARG1) ENSP00000349446.2:p.Arg21=
ENST00000368087.7:c.63A>G (ARG1) ENSP00000357066.3:p.Arg21=
ENST00000469293.1:n.147-2443A>G (ARG1)
ENST00000484820.1:n.35A>G (ARG1)
ENST00000498260.1:n.104A>G (ARG1)
NM_000045.3:c.63A>G (ARG1) NP_000036.2:p.Arg21=
NM_001244438.1:c.63A>G (ARG1) NP_001231367.1:p.Arg21=
NM_001270521.1:c.4078-2373T>C (MED23) NP_001257450.1:n.4078-2373T>C
NM_015979.3:c.4096-2373T>C (MED23) NP_057063.2:n.4096-2373T>C
XM_011535801.1:c.63A>G (ARG1) XP_011534103.1:p.Arg21=
XM_011535801.2:c.63A>G (ARG1) XP_011534103.1:p.Arg21=
NM_000045.4:c.63A>G (ARG1) MANE Select NP_000036.2:p.Arg21=
NM_001244438.2:c.63A>G (ARG1) NP_001231367.1:p.Arg21=
NM_001270521.2:c.4078-2373T>C (MED23) NP_001257450.1:n.4078-2373T>C
NM_001369020.1:c.63A>G (ARG1) NP_001355949.1:p.Arg21=
NM_015979.4:c.4096-2373T>C (MED23) NP_057063.2:n.4096-2373T>C
NR_160934.1:n.115-2443A>G (ARG1)