Canonical Allele Identifier: CA452148286

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131579178T>C , CM000668.2:g.131579178T>C	GRCh38
NC_000006.11:g.131900318T>C , CM000668.1:g.131900318T>C	GRCh37
NC_000006.10:g.131942011T>C	NCBI36
NG_007086.2:g.10954T>C
NG_031860.1:g.54046A>G
NG_031860.2:g.54046A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000045.4:c.198T>C (ARG1) MANE Select	NP_000036.2:p.Ile66=
ENST00000368087.8:c.198T>C (ARG1) MANE Select	ENSP00000357066.3:p.Ile66=
NM_000045.3:c.198T>C (ARG1)	NP_000036.2:p.Ile66=
NM_001244438.1:c.222T>C (ARG1)	NP_001231367.1:p.Ile74=
NM_001244438.2:c.222T>C (ARG1)	NP_001231367.1:p.Ile74=
NM_001270521.1:c.4078-4883A>G (MED23)	NP_001257450.1:n.4078-4883A>G
NM_001270521.2:c.4078-4883A>G (MED23)	NP_001257450.1:n.4078-4883A>G
NM_001369020.1:c.198T>C (ARG1)	NP_001355949.1:p.Ile66=
NM_015979.3:c.4096-4883A>G (MED23)	NP_057063.2:n.4096-4883A>G
NM_015979.4:c.4096-4883A>G (MED23)	NP_057063.2:n.4096-4883A>G
NR_160934.1:n.182T>C (ARG1)
ENST00000275196.5:n.182T>C (ARG1)
ENST00000354577.8:c.4096-4883A>G (MED23)	ENSP00000346588.4:n.4096-4883A>G
ENST00000356962.2:c.222T>C (ARG1)	ENSP00000349446.2:p.Ile74=
ENST00000368087.7:c.198T>C (ARG1)	ENSP00000357066.3:p.Ile66=
ENST00000469293.1:n.214T>C (ARG1)
ENST00000484820.1:n.170T>C (ARG1)
ENST00000498260.1:n.239T>C (ARG1)
ENST00000640973.1:c.198T>C (ARG1)	ENSP00000492623.1:p.Ile66=
ENST00000672052.1:n.445T>C (ARG1)
ENST00000672233.1:c.144T>C (ARG1)	ENSP00000499826.1:p.Ile48=
ENST00000673234.1:c.*85T>C (ARG1)	ENSP00000499885.1:n.*85T>C
ENST00000673427.1:c.198T>C (ARG1)	ENSP00000500160.1:p.Ile66=
XM_011535801.1:c.198T>C (ARG1)	XP_011534103.1:p.Ile66=
XM_011535801.2:c.198T>C (ARG1)	XP_011534103.1:p.Ile66=