Canonical Allele Identifier: CA365650839

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131579275G>C , CM000668.2:g.131579275G>C	GRCh38
NC_000006.11:g.131900415G>C , CM000668.1:g.131900415G>C	GRCh37
NC_000006.10:g.131942108G>C	NCBI36
NG_007086.2:g.11051G>C
NG_031860.1:g.53949C>G
NG_031860.2:g.53949C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000045.4:c.295G>C (ARG1) MANE Select	NP_000036.2:p.Gly99Arg
ENST00000368087.8:c.295G>C (ARG1) MANE Select	ENSP00000357066.3:p.Gly99Arg
NM_000045.3:c.295G>C (ARG1)	NP_000036.2:p.Gly99Arg
NM_001244438.1:c.319G>C (ARG1)	NP_001231367.1:p.Gly107Arg
NM_001244438.2:c.319G>C (ARG1)	NP_001231367.1:p.Gly107Arg
NM_001270521.1:c.4078-4980C>G (MED23)	NP_001257450.1:n.4078-4980C>G
NM_001270521.2:c.4078-4980C>G (MED23)	NP_001257450.1:n.4078-4980C>G
NM_001369020.1:c.295G>C (ARG1)	NP_001355949.1:p.Gly99Arg
NM_015979.3:c.4096-4980C>G (MED23)	NP_057063.2:n.4096-4980C>G
NM_015979.4:c.4096-4980C>G (MED23)	NP_057063.2:n.4096-4980C>G
NR_160934.1:n.279G>C (ARG1)
ENST00000275196.5:n.279G>C (ARG1)
ENST00000354577.8:c.4096-4980C>G (MED23)	ENSP00000346588.4:n.4096-4980C>G
ENST00000356962.2:c.319G>C (ARG1)	ENSP00000349446.2:p.Gly107Arg
ENST00000368087.7:c.295G>C (ARG1)	ENSP00000357066.3:p.Gly99Arg
ENST00000469293.1:n.311G>C (ARG1)
ENST00000484820.1:n.267G>C (ARG1)
ENST00000498260.1:n.336G>C (ARG1)
ENST00000640973.1:c.295G>C (ARG1)	ENSP00000492623.1:p.Gly99Arg
ENST00000672052.1:n.542G>C (ARG1)
ENST00000672233.1:c.241G>C (ARG1)	ENSP00000499826.1:p.Gly81Arg
ENST00000673234.1:c.*182G>C (ARG1)	ENSP00000499885.1:n.*182G>C
ENST00000673427.1:c.295G>C (ARG1)	ENSP00000500160.1:p.Gly99Arg
XM_011535801.1:c.295G>C (ARG1)	XP_011534103.1:p.Gly99Arg
XM_011535801.2:c.295G>C (ARG1)	XP_011534103.1:p.Gly99Arg