Canonical Allele Identifier: CA365653624

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 1338999
• ClinVar RCV Id: RCV001823453
• dbSNP Id: rs2114551376
• MyVariant Identifiers: chr6:g.131904954C>G (hg19) ; chr6:g.131583814C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583814C>G , CM000668.2:g.131583814C>G	GRCh38
NC_000006.11:g.131904954C>G , CM000668.1:g.131904954C>G	GRCh37
NC_000006.10:g.131946647C>G	NCBI36
NG_007086.2:g.15590C>G
NG_031860.1:g.49410G>C
NG_031860.2:g.49410G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.875C>G (ARG1) MANE Select	ENSP00000357066.3:p.Thr292Arg
ENST00000640973.1:c.617C>G (ARG1)	ENSP00000492623.1:p.Thr206Arg
ENST00000672233.1:c.821C>G (ARG1)	ENSP00000499826.1:p.Thr274Arg
ENST00000673234.1:c.*762C>G (ARG1)	ENSP00000499885.1:n.*762C>G
ENST00000673427.1:c.620C>G (ARG1)	ENSP00000500160.1:p.Thr207Arg
ENST00000354577.8:c.4095+3895G>C (MED23)	ENSP00000346588.4:n.4095+3895G>C
ENST00000356962.2:c.899C>G (ARG1)	ENSP00000349446.2:p.Thr300Arg
ENST00000368087.7:c.875C>G (ARG1)	ENSP00000357066.3:p.Thr292Arg
NM_000045.3:c.875C>G (ARG1)	NP_000036.2:p.Thr292Arg
NM_001244438.1:c.899C>G (ARG1)	NP_001231367.1:p.Thr300Arg
NM_001270521.1:c.4077+3895G>C (MED23)	NP_001257450.1:n.4077+3895G>C
NM_015979.3:c.4095+3895G>C (MED23)	NP_057063.2:n.4095+3895G>C
XM_011535801.1:c.620C>G (ARG1)	XP_011534103.1:p.Thr207Arg
XM_011535801.2:c.620C>G (ARG1)	XP_011534103.1:p.Thr207Arg
NM_000045.4:c.875C>G (ARG1) MANE Select	NP_000036.2:p.Thr292Arg
NM_001244438.2:c.899C>G (ARG1)	NP_001231367.1:p.Thr300Arg
NM_001270521.2:c.4077+3895G>C (MED23)	NP_001257450.1:n.4077+3895G>C
NM_001369020.1:c.620C>G (ARG1)	NP_001355949.1:p.Thr207Arg
NM_015979.4:c.4095+3895G>C (MED23)	NP_057063.2:n.4095+3895G>C
NR_160934.1:n.859C>G (ARG1)