Canonical Allele Identifier: CA452153283

Gene: ARG1 MED23

Linked Data

• gnomAD v4: 6-131583755-A-T
• MyVariant Identifiers: chr6:g.131904895A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583755A>T , CM000668.2:g.131583755A>T	GRCh38
NC_000006.11:g.131904895A>T , CM000668.1:g.131904895A>T	GRCh37
NC_000006.10:g.131946588A>T	NCBI36
NG_007086.2:g.15531A>T
NG_031860.1:g.49469T>A
NG_031860.2:g.49469T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.816A>T (ARG1) MANE Select	ENSP00000357066.3:p.Gly272=
ENST00000640973.1:c.605-47A>T (ARG1)	ENSP00000492623.1:n.605-47A>T
ENST00000672233.1:c.762A>T (ARG1)	ENSP00000499826.1:p.Gly254=
ENST00000673234.1:c.*703A>T (ARG1)	ENSP00000499885.1:n.*703A>T
ENST00000673427.1:c.561A>T (ARG1)	ENSP00000500160.1:p.Gly187=
ENST00000354577.8:c.4095+3954T>A (MED23)	ENSP00000346588.4:n.4095+3954T>A
ENST00000356962.2:c.840A>T (ARG1)	ENSP00000349446.2:p.Gly280=
ENST00000368087.7:c.816A>T (ARG1)	ENSP00000357066.3:p.Gly272=
NM_000045.3:c.816A>T (ARG1)	NP_000036.2:p.Gly272=
NM_001244438.1:c.840A>T (ARG1)	NP_001231367.1:p.Gly280=
NM_001270521.1:c.4077+3954T>A (MED23)	NP_001257450.1:n.4077+3954T>A
NM_015979.3:c.4095+3954T>A (MED23)	NP_057063.2:n.4095+3954T>A
XM_011535801.1:c.561A>T (ARG1)	XP_011534103.1:p.Gly187=
XM_011535801.2:c.561A>T (ARG1)	XP_011534103.1:p.Gly187=
NM_000045.4:c.816A>T (ARG1) MANE Select	NP_000036.2:p.Gly272=
NM_001244438.2:c.840A>T (ARG1)	NP_001231367.1:p.Gly280=
NM_001270521.2:c.4077+3954T>A (MED23)	NP_001257450.1:n.4077+3954T>A
NM_001369020.1:c.561A>T (ARG1)	NP_001355949.1:p.Gly187=
NM_015979.4:c.4095+3954T>A (MED23)	NP_057063.2:n.4095+3954T>A
NR_160934.1:n.800A>T (ARG1)