Canonical Allele Identifier: CA1664137962

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583873C= , CM000668.2:g.131583873C= GRCh38
NC_000006.11:g.131905013C= , CM000668.1:g.131905013C= GRCh37
NC_000006.10:g.131946706C= NCBI36
NG_007086.2:g.15649C=
NG_031860.1:g.49351G=
NG_031860.2:g.49351G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.934C= (ARG1) MANE Select ENSP00000357066.3:p.His312=
ENST00000640973.1:c.676C= (ARG1) ENSP00000492623.1:p.His226=
ENST00000672233.1:c.880C= (ARG1) ENSP00000499826.1:p.His294=
ENST00000673234.1:c.*821C= (ARG1) ENSP00000499885.1:n.*821C=
ENST00000673427.1:c.679C= (ARG1) ENSP00000500160.1:p.His227=
ENST00000354577.8:c.4095+3836G= (MED23) ENSP00000346588.4:n.4095+3836G=
ENST00000356962.2:c.958C= (ARG1) ENSP00000349446.2:p.His320=
ENST00000368087.7:c.934C= (ARG1) ENSP00000357066.3:p.His312=
NM_000045.3:c.934C= (ARG1) NP_000036.2:p.His312=
NM_001244438.1:c.958C= (ARG1) NP_001231367.1:p.His320=
NM_001270521.1:c.4077+3836G= (MED23) NP_001257450.1:n.4077+3836G=
NM_015979.3:c.4095+3836G= (MED23) NP_057063.2:n.4095+3836G=
XM_011535801.1:c.679C= (ARG1) XP_011534103.1:p.His227=
XM_011535801.2:c.679C= (ARG1) XP_011534103.1:p.His227=
NM_000045.4:c.934C= (ARG1) MANE Select NP_000036.2:p.His312=
NM_001244438.2:c.958C= (ARG1) NP_001231367.1:p.His320=
NM_001270521.2:c.4077+3836G= (MED23) NP_001257450.1:n.4077+3836G=
NM_001369020.1:c.679C= (ARG1) NP_001355949.1:p.His227=
NM_015979.4:c.4095+3836G= (MED23) NP_057063.2:n.4095+3836G=
NR_160934.1:n.918C= (ARG1)