Canonical Allele Identifier: CA570092105

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131576646A>T , CM000668.2:g.131576646A>T GRCh38
NC_000006.11:g.131897786A>T , CM000668.1:g.131897786A>T GRCh37
NC_000006.10:g.131939479A>T NCBI36
NG_007086.2:g.8422A>T
NG_031860.1:g.56578T>A
NG_031860.2:g.56578T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.58-17A>T (ARG1) MANE Select ENSP00000357066.3:n.58-17A>T
ENST00000640973.1:c.58-17A>T (ARG1) ENSP00000492623.1:n.58-17A>T
ENST00000672052.1:n.305-17A>T (ARG1)
ENST00000672233.1:c.77-2465A>T (ARG1) ENSP00000499826.1:n.77-2465A>T
ENST00000673234.1:c.77-17A>T (ARG1) ENSP00000499885.1:n.77-17A>T
ENST00000673427.1:c.58-17A>T (ARG1) ENSP00000500160.1:n.58-17A>T
ENST00000275196.5:n.115-2465A>T (ARG1)
ENST00000354577.8:c.4096-2351T>A (MED23) ENSP00000346588.4:n.4096-2351T>A
ENST00000356962.2:c.58-17A>T (ARG1) ENSP00000349446.2:n.58-17A>T
ENST00000368087.7:c.58-17A>T (ARG1) ENSP00000357066.3:n.58-17A>T
ENST00000469293.1:n.147-2465A>T (ARG1)
ENST00000484820.1:n.13A>T (ARG1)
ENST00000498260.1:n.99-17A>T (ARG1)
NM_000045.3:c.58-17A>T (ARG1) NP_000036.2:n.58-17A>T
NM_001244438.1:c.58-17A>T (ARG1) NP_001231367.1:n.58-17A>T
NM_001270521.1:c.4078-2351T>A (MED23) NP_001257450.1:n.4078-2351T>A
NM_015979.3:c.4096-2351T>A (MED23) NP_057063.2:n.4096-2351T>A
XM_011535801.1:c.58-17A>T (ARG1) XP_011534103.1:n.58-17A>T
XM_011535801.2:c.58-17A>T (ARG1) XP_011534103.1:n.58-17A>T
NM_000045.4:c.58-17A>T (ARG1) MANE Select NP_000036.2:n.58-17A>T
NM_001244438.2:c.58-17A>T (ARG1) NP_001231367.1:n.58-17A>T
NM_001270521.2:c.4078-2351T>A (MED23) NP_001257450.1:n.4078-2351T>A
NM_001369020.1:c.58-17A>T (ARG1) NP_001355949.1:n.58-17A>T
NM_015979.4:c.4096-2351T>A (MED23) NP_057063.2:n.4096-2351T>A
NR_160934.1:n.115-2465A>T (ARG1)