Canonical Allele Identifier: CA1664137938

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.923G= (ARG1) MANE Select ENSP00000357066.3:p.Arg308=
ENST00000640973.1:c.665G= (ARG1) ENSP00000492623.1:p.Arg222=
ENST00000672233.1:c.869G= (ARG1) ENSP00000499826.1:p.Arg290=
ENST00000673234.1:c.*810G= (ARG1) ENSP00000499885.1:n.*810G=
ENST00000673427.1:c.668G= (ARG1) ENSP00000500160.1:p.Arg223=
ENST00000354577.8:c.4095+3847C= (MED23) ENSP00000346588.4:n.4095+3847C=
ENST00000356962.2:c.947G= (ARG1) ENSP00000349446.2:p.Arg316=
ENST00000368087.7:c.923G= (ARG1) ENSP00000357066.3:p.Arg308=
NM_000045.3:c.923G= (ARG1) NP_000036.2:p.Arg308=
NM_001244438.1:c.947G= (ARG1) NP_001231367.1:p.Arg316=
NM_001270521.1:c.4077+3847C= (MED23) NP_001257450.1:n.4077+3847C=
NM_015979.3:c.4095+3847C= (MED23) NP_057063.2:n.4095+3847C=
XM_011535801.1:c.668G= (ARG1) XP_011534103.1:p.Arg223=
XM_011535801.2:c.668G= (ARG1) XP_011534103.1:p.Arg223=
NM_000045.4:c.923G= (ARG1) MANE Select NP_000036.2:p.Arg308=
NM_001244438.2:c.947G= (ARG1) NP_001231367.1:p.Arg316=
NM_001270521.2:c.4077+3847C= (MED23) NP_001257450.1:n.4077+3847C=
NM_001369020.1:c.668G= (ARG1) NP_001355949.1:p.Arg223=
NM_015979.4:c.4095+3847C= (MED23) NP_057063.2:n.4095+3847C=
NR_160934.1:n.907G= (ARG1)