Canonical Allele Identifier: CA1664138002

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583891C= , CM000668.2:g.131583891C=	GRCh38
NC_000006.11:g.131905031C= , CM000668.1:g.131905031C=	GRCh37
NC_000006.10:g.131946724C=	NCBI36
NG_007086.2:g.15667C=
NG_031860.1:g.49333G=
NG_031860.2:g.49333G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.952C= (ARG1) MANE Select	ENSP00000357066.3:p.Leu318=
ENST00000640973.1:c.694C= (ARG1)	ENSP00000492623.1:p.Leu232=
ENST00000672233.1:c.898C= (ARG1)	ENSP00000499826.1:p.Leu300=
ENST00000673234.1:c.*839C= (ARG1)	ENSP00000499885.1:n.*839C=
ENST00000673427.1:c.697C= (ARG1)	ENSP00000500160.1:p.Leu233=
ENST00000354577.8:c.4095+3818G= (MED23)	ENSP00000346588.4:n.4095+3818G=
ENST00000356962.2:c.976C= (ARG1)	ENSP00000349446.2:p.Leu326=
ENST00000368087.7:c.952C= (ARG1)	ENSP00000357066.3:p.Leu318=
NM_000045.3:c.952C= (ARG1)	NP_000036.2:p.Leu318=
NM_001244438.1:c.976C= (ARG1)	NP_001231367.1:p.Leu326=
NM_001270521.1:c.4077+3818G= (MED23)	NP_001257450.1:n.4077+3818G=
NM_015979.3:c.4095+3818G= (MED23)	NP_057063.2:n.4095+3818G=
XM_011535801.1:c.697C= (ARG1)	XP_011534103.1:p.Leu233=
XM_011535801.2:c.697C= (ARG1)	XP_011534103.1:p.Leu233=
NM_000045.4:c.952C= (ARG1) MANE Select	NP_000036.2:p.Leu318=
NM_001244438.2:c.976C= (ARG1)	NP_001231367.1:p.Leu326=
NM_001270521.2:c.4077+3818G= (MED23)	NP_001257450.1:n.4077+3818G=
NM_001369020.1:c.697C= (ARG1)	NP_001355949.1:p.Leu233=
NM_015979.4:c.4095+3818G= (MED23)	NP_057063.2:n.4095+3818G=
NR_160934.1:n.936C= (ARG1)