Canonical Allele Identifier: CA1664135341

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131581278G= , CM000668.2:g.131581278G=	GRCh38
NC_000006.11:g.131902418G= , CM000668.1:g.131902418G=	GRCh37
NC_000006.10:g.131944111G=	NCBI36
NG_007086.2:g.13054G=
NG_031860.1:g.51946C=
NG_031860.2:g.51946C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.365G= (ARG1) MANE Select	ENSP00000357066.3:p.Trp122=
ENST00000640973.1:c.365G= (ARG1)	ENSP00000492623.1:p.Trp122=
ENST00000672233.1:c.311G= (ARG1)	ENSP00000499826.1:p.Trp104=
ENST00000673234.1:c.*252G= (ARG1)	ENSP00000499885.1:n.*252G=
ENST00000673427.1:c.306-1782G= (ARG1)	ENSP00000500160.1:n.306-1782G=
ENST00000275196.5:n.349G= (ARG1)
ENST00000354577.8:c.4095+6431C= (MED23)	ENSP00000346588.4:n.4095+6431C=
ENST00000356962.2:c.389G= (ARG1)	ENSP00000349446.2:p.Trp130=
ENST00000368087.7:c.365G= (ARG1)	ENSP00000357066.3:p.Trp122=
NM_000045.3:c.365G= (ARG1)	NP_000036.2:p.Trp122=
NM_001244438.1:c.389G= (ARG1)	NP_001231367.1:p.Trp130=
NM_001270521.1:c.4077+6431C= (MED23)	NP_001257450.1:n.4077+6431C=
NM_015979.3:c.4095+6431C= (MED23)	NP_057063.2:n.4095+6431C=
XM_011535801.1:c.306-1782G= (ARG1)	XP_011534103.1:n.306-1782G=
XM_011535801.2:c.306-1782G= (ARG1)	XP_011534103.1:n.306-1782G=
NM_000045.4:c.365G= (ARG1) MANE Select	NP_000036.2:p.Trp122=
NM_001244438.2:c.389G= (ARG1)	NP_001231367.1:p.Trp130=
NM_001270521.2:c.4077+6431C= (MED23)	NP_001257450.1:n.4077+6431C=
NM_001369020.1:c.306-1782G= (ARG1)	NP_001355949.1:n.306-1782G=
NM_015979.4:c.4095+6431C= (MED23)	NP_057063.2:n.4095+6431C=
NR_160934.1:n.349G= (ARG1)