Canonical Allele Identifier: CA3999188

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131579137C>T , CM000668.2:g.131579137C>T	GRCh38
NC_000006.11:g.131900277C>T , CM000668.1:g.131900277C>T	GRCh37
NC_000006.10:g.131941970C>T	NCBI36
NG_007086.2:g.10913C>T
NG_031860.1:g.54087G>A
NG_031860.2:g.54087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.157C>T (ARG1) MANE Select	ENSP00000357066.3:p.Leu53=
ENST00000640973.1:c.157C>T (ARG1)	ENSP00000492623.1:p.Leu53=
ENST00000672052.1:n.404C>T (ARG1)
ENST00000672233.1:c.103C>T (ARG1)	ENSP00000499826.1:p.Leu35=
ENST00000673234.1:c.*44C>T (ARG1)	ENSP00000499885.1:n.*44C>T
ENST00000673427.1:c.157C>T (ARG1)	ENSP00000500160.1:p.Leu53=
ENST00000275196.5:n.141C>T (ARG1)
ENST00000354577.8:c.4096-4842G>A (MED23)	ENSP00000346588.4:n.4096-4842G>A
ENST00000356962.2:c.181C>T (ARG1)	ENSP00000349446.2:p.Leu61=
ENST00000368087.7:c.157C>T (ARG1)	ENSP00000357066.3:p.Leu53=
ENST00000469293.1:n.173C>T (ARG1)
ENST00000484820.1:n.129C>T (ARG1)
ENST00000498260.1:n.198C>T (ARG1)
NM_000045.3:c.157C>T (ARG1)	NP_000036.2:p.Leu53=
NM_001244438.1:c.181C>T (ARG1)	NP_001231367.1:p.Leu61=
NM_001270521.1:c.4078-4842G>A (MED23)	NP_001257450.1:n.4078-4842G>A
NM_015979.3:c.4096-4842G>A (MED23)	NP_057063.2:n.4096-4842G>A
XM_011535801.1:c.157C>T (ARG1)	XP_011534103.1:p.Leu53=
XM_011535801.2:c.157C>T (ARG1)	XP_011534103.1:p.Leu53=
NM_000045.4:c.157C>T (ARG1) MANE Select	NP_000036.2:p.Leu53=
NM_001244438.2:c.181C>T (ARG1)	NP_001231367.1:p.Leu61=
NM_001270521.2:c.4078-4842G>A (MED23)	NP_001257450.1:n.4078-4842G>A
NM_001369020.1:c.157C>T (ARG1)	NP_001355949.1:p.Leu53=
NM_015979.4:c.4096-4842G>A (MED23)	NP_057063.2:n.4096-4842G>A
NR_160934.1:n.141C>T (ARG1)