Canonical Allele Identifier: CA1664135547

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131581440G= , CM000668.2:g.131581440G= GRCh38
NC_000006.11:g.131902580G= , CM000668.1:g.131902580G= GRCh37
NC_000006.10:g.131944273G= NCBI36
NG_007086.2:g.13216G=
NG_031860.1:g.51784C=
NG_031860.2:g.51784C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.465+62G= (ARG1) MANE Select ENSP00000357066.3:n.465+62G=
ENST00000640973.1:c.465+62G= (ARG1) ENSP00000492623.1:n.465+62G=
ENST00000672233.1:c.411+62G= (ARG1) ENSP00000499826.1:n.411+62G=
ENST00000673234.1:c.*352+62G= (ARG1) ENSP00000499885.1:n.*352+62G=
ENST00000673427.1:c.306-1620G= (ARG1) ENSP00000500160.1:n.306-1620G=
ENST00000275196.5:n.449+62G= (ARG1)
ENST00000354577.8:c.4095+6269C= (MED23) ENSP00000346588.4:n.4095+6269C=
ENST00000356962.2:c.489+62G= (ARG1) ENSP00000349446.2:n.489+62G=
ENST00000368087.7:c.465+62G= (ARG1) ENSP00000357066.3:n.465+62G=
NM_000045.3:c.465+62G= (ARG1) NP_000036.2:n.465+62G=
NM_001244438.1:c.489+62G= (ARG1) NP_001231367.1:n.489+62G=
NM_001270521.1:c.4077+6269C= (MED23) NP_001257450.1:n.4077+6269C=
NM_015979.3:c.4095+6269C= (MED23) NP_057063.2:n.4095+6269C=
XM_011535801.1:c.306-1620G= (ARG1) XP_011534103.1:n.306-1620G=
XM_011535801.2:c.306-1620G= (ARG1) XP_011534103.1:n.306-1620G=
NM_000045.4:c.465+62G= (ARG1) MANE Select NP_000036.2:n.465+62G=
NM_001244438.2:c.489+62G= (ARG1) NP_001231367.1:n.489+62G=
NM_001270521.2:c.4077+6269C= (MED23) NP_001257450.1:n.4077+6269C=
NM_001369020.1:c.306-1620G= (ARG1) NP_001355949.1:n.306-1620G=
NM_015979.4:c.4095+6269C= (MED23) NP_057063.2:n.4095+6269C=
NR_160934.1:n.449+62G= (ARG1)