Canonical Allele Identifier: CA3999385

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 1420151
• ClinVar RCV Id: RCV001914057
• dbSNP Id: rs781780752
• ExAC: 6:131904904 A / G
• gnomAD v2: 6-131904904-A-G
• gnomAD v4: 6-131583764-A-G
• MyVariant Identifiers: chr6:g.131904904A>G (hg19) ; chr6:g.131583764A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583764A>G , CM000668.2:g.131583764A>G	GRCh38
NC_000006.11:g.131904904A>G , CM000668.1:g.131904904A>G	GRCh37
NC_000006.10:g.131946597A>G	NCBI36
NG_007086.2:g.15540A>G
NG_031860.1:g.49460T>C
NG_031860.2:g.49460T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.825A>G (ARG1) MANE Select	ENSP00000357066.3:p.Ile275Met
ENST00000640973.1:c.605-38A>G (ARG1)	ENSP00000492623.1:n.605-38A>G
ENST00000672233.1:c.771A>G (ARG1)	ENSP00000499826.1:p.Ile257Met
ENST00000673234.1:c.*712A>G (ARG1)	ENSP00000499885.1:n.*712A>G
ENST00000673427.1:c.570A>G (ARG1)	ENSP00000500160.1:p.Ile190Met
ENST00000354577.8:c.4095+3945T>C (MED23)	ENSP00000346588.4:n.4095+3945T>C
ENST00000356962.2:c.849A>G (ARG1)	ENSP00000349446.2:p.Ile283Met
ENST00000368087.7:c.825A>G (ARG1)	ENSP00000357066.3:p.Ile275Met
NM_000045.3:c.825A>G (ARG1)	NP_000036.2:p.Ile275Met
NM_001244438.1:c.849A>G (ARG1)	NP_001231367.1:p.Ile283Met
NM_001270521.1:c.4077+3945T>C (MED23)	NP_001257450.1:n.4077+3945T>C
NM_015979.3:c.4095+3945T>C (MED23)	NP_057063.2:n.4095+3945T>C
XM_011535801.1:c.570A>G (ARG1)	XP_011534103.1:p.Ile190Met
XM_011535801.2:c.570A>G (ARG1)	XP_011534103.1:p.Ile190Met
NM_000045.4:c.825A>G (ARG1) MANE Select	NP_000036.2:p.Ile275Met
NM_001244438.2:c.849A>G (ARG1)	NP_001231367.1:p.Ile283Met
NM_001270521.2:c.4077+3945T>C (MED23)	NP_001257450.1:n.4077+3945T>C
NM_001369020.1:c.570A>G (ARG1)	NP_001355949.1:p.Ile190Met
NM_015979.4:c.4095+3945T>C (MED23)	NP_057063.2:n.4095+3945T>C
NR_160934.1:n.809A>G (ARG1)