Canonical Allele Identifier: CA1664138012

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583895A= , CM000668.2:g.131583895A= GRCh38
NC_000006.11:g.131905035A= , CM000668.1:g.131905035A= GRCh37
NC_000006.10:g.131946728A= NCBI36
NG_007086.2:g.15671A=
NG_031860.1:g.49329T=
NG_031860.2:g.49329T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.956A= (ARG1) MANE Select ENSP00000357066.3:p.Asn319=
ENST00000640973.1:c.698A= (ARG1) ENSP00000492623.1:p.Asn233=
ENST00000672233.1:c.902A= (ARG1) ENSP00000499826.1:p.Asn301=
ENST00000673234.1:c.*843A= (ARG1) ENSP00000499885.1:n.*843A=
ENST00000673427.1:c.701A= (ARG1) ENSP00000500160.1:p.Asn234=
ENST00000354577.8:c.4095+3814T= (MED23) ENSP00000346588.4:n.4095+3814T=
ENST00000356962.2:c.980A= (ARG1) ENSP00000349446.2:p.Asn327=
ENST00000368087.7:c.956A= (ARG1) ENSP00000357066.3:p.Asn319=
NM_000045.3:c.956A= (ARG1) NP_000036.2:p.Asn319=
NM_001244438.1:c.980A= (ARG1) NP_001231367.1:p.Asn327=
NM_001270521.1:c.4077+3814T= (MED23) NP_001257450.1:n.4077+3814T=
NM_015979.3:c.4095+3814T= (MED23) NP_057063.2:n.4095+3814T=
XM_011535801.1:c.701A= (ARG1) XP_011534103.1:p.Asn234=
XM_011535801.2:c.701A= (ARG1) XP_011534103.1:p.Asn234=
NM_000045.4:c.956A= (ARG1) MANE Select NP_000036.2:p.Asn319=
NM_001244438.2:c.980A= (ARG1) NP_001231367.1:p.Asn327=
NM_001270521.2:c.4077+3814T= (MED23) NP_001257450.1:n.4077+3814T=
NM_001369020.1:c.701A= (ARG1) NP_001355949.1:p.Asn234=
NM_015979.4:c.4095+3814T= (MED23) NP_057063.2:n.4095+3814T=
NR_160934.1:n.940A= (ARG1)