Canonical Allele Identifier: CA452153362

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 2898195
• ClinVar RCV Id: RCV003603594
• gnomAD v4: 6-131583866-G-A
• MyVariant Identifiers: chr6:g.131905006G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583866G>A , CM000668.2:g.131583866G>A	GRCh38
NC_000006.11:g.131905006G>A , CM000668.1:g.131905006G>A	GRCh37
NC_000006.10:g.131946699G>A	NCBI36
NG_007086.2:g.15642G>A
NG_031860.1:g.49358C>T
NG_031860.2:g.49358C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.927G>A (ARG1) MANE Select	ENSP00000357066.3:p.Glu309=
ENST00000640973.1:c.669G>A (ARG1)	ENSP00000492623.1:p.Glu223=
ENST00000672233.1:c.873G>A (ARG1)	ENSP00000499826.1:p.Glu291=
ENST00000673234.1:c.*814G>A (ARG1)	ENSP00000499885.1:n.*814G>A
ENST00000673427.1:c.672G>A (ARG1)	ENSP00000500160.1:p.Glu224=
ENST00000354577.8:c.4095+3843C>T (MED23)	ENSP00000346588.4:n.4095+3843C>T
ENST00000356962.2:c.951G>A (ARG1)	ENSP00000349446.2:p.Glu317=
ENST00000368087.7:c.927G>A (ARG1)	ENSP00000357066.3:p.Glu309=
NM_000045.3:c.927G>A (ARG1)	NP_000036.2:p.Glu309=
NM_001244438.1:c.951G>A (ARG1)	NP_001231367.1:p.Glu317=
NM_001270521.1:c.4077+3843C>T (MED23)	NP_001257450.1:n.4077+3843C>T
NM_015979.3:c.4095+3843C>T (MED23)	NP_057063.2:n.4095+3843C>T
XM_011535801.1:c.672G>A (ARG1)	XP_011534103.1:p.Glu224=
XM_011535801.2:c.672G>A (ARG1)	XP_011534103.1:p.Glu224=
NM_000045.4:c.927G>A (ARG1) MANE Select	NP_000036.2:p.Glu309=
NM_001244438.2:c.951G>A (ARG1)	NP_001231367.1:p.Glu317=
NM_001270521.2:c.4077+3843C>T (MED23)	NP_001257450.1:n.4077+3843C>T
NM_001369020.1:c.672G>A (ARG1)	NP_001355949.1:p.Glu224=
NM_015979.4:c.4095+3843C>T (MED23)	NP_057063.2:n.4095+3843C>T
NR_160934.1:n.911G>A (ARG1)