Canonical Allele Identifier: CA1664137747

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583757T= , CM000668.2:g.131583757T=	GRCh38
NC_000006.11:g.131904897T= , CM000668.1:g.131904897T=	GRCh37
NC_000006.10:g.131946590T=	NCBI36
NG_007086.2:g.15533T=
NG_031860.1:g.49467A=
NG_031860.2:g.49467A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.818T= (ARG1) MANE Select	ENSP00000357066.3:p.Leu273=
ENST00000640973.1:c.605-45T= (ARG1)	ENSP00000492623.1:n.605-45T=
ENST00000672233.1:c.764T= (ARG1)	ENSP00000499826.1:p.Leu255=
ENST00000673234.1:c.*705T= (ARG1)	ENSP00000499885.1:n.*705T=
ENST00000673427.1:c.563T= (ARG1)	ENSP00000500160.1:p.Leu188=
ENST00000354577.8:c.4095+3952A= (MED23)	ENSP00000346588.4:n.4095+3952A=
ENST00000356962.2:c.842T= (ARG1)	ENSP00000349446.2:p.Leu281=
ENST00000368087.7:c.818T= (ARG1)	ENSP00000357066.3:p.Leu273=
NM_000045.3:c.818T= (ARG1)	NP_000036.2:p.Leu273=
NM_001244438.1:c.842T= (ARG1)	NP_001231367.1:p.Leu281=
NM_001270521.1:c.4077+3952A= (MED23)	NP_001257450.1:n.4077+3952A=
NM_015979.3:c.4095+3952A= (MED23)	NP_057063.2:n.4095+3952A=
XM_011535801.1:c.563T= (ARG1)	XP_011534103.1:p.Leu188=
XM_011535801.2:c.563T= (ARG1)	XP_011534103.1:p.Leu188=
NM_000045.4:c.818T= (ARG1) MANE Select	NP_000036.2:p.Leu273=
NM_001244438.2:c.842T= (ARG1)	NP_001231367.1:p.Leu281=
NM_001270521.2:c.4077+3952A= (MED23)	NP_001257450.1:n.4077+3952A=
NM_001369020.1:c.563T= (ARG1)	NP_001355949.1:p.Leu188=
NM_015979.4:c.4095+3952A= (MED23)	NP_057063.2:n.4095+3952A=
NR_160934.1:n.802T= (ARG1)