Canonical Allele Identifier: CA365651031

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 2678232
• ClinVar RCV Id: RCV003463454
• MyVariant Identifiers: chr6:g.131902427C>T (hg19) ; chr6:g.131581287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131581287C>T , CM000668.2:g.131581287C>T	GRCh38
NC_000006.11:g.131902427C>T , CM000668.1:g.131902427C>T	GRCh37
NC_000006.10:g.131944120C>T	NCBI36
NG_007086.2:g.13063C>T
NG_031860.1:g.51937G>A
NG_031860.2:g.51937G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.374C>T (ARG1) MANE Select	ENSP00000357066.3:p.Ala125Val
ENST00000640973.1:c.374C>T (ARG1)	ENSP00000492623.1:p.Ala125Val
ENST00000672233.1:c.320C>T (ARG1)	ENSP00000499826.1:p.Ala107Val
ENST00000673234.1:c.*261C>T (ARG1)	ENSP00000499885.1:n.*261C>T
ENST00000673427.1:c.306-1773C>T (ARG1)	ENSP00000500160.1:n.306-1773C>T
ENST00000275196.5:n.358C>T (ARG1)
ENST00000354577.8:c.4095+6422G>A (MED23)	ENSP00000346588.4:n.4095+6422G>A
ENST00000356962.2:c.398C>T (ARG1)	ENSP00000349446.2:p.Ala133Val
ENST00000368087.7:c.374C>T (ARG1)	ENSP00000357066.3:p.Ala125Val
NM_000045.3:c.374C>T (ARG1)	NP_000036.2:p.Ala125Val
NM_001244438.1:c.398C>T (ARG1)	NP_001231367.1:p.Ala133Val
NM_001270521.1:c.4077+6422G>A (MED23)	NP_001257450.1:n.4077+6422G>A
NM_015979.3:c.4095+6422G>A (MED23)	NP_057063.2:n.4095+6422G>A
XM_011535801.1:c.306-1773C>T (ARG1)	XP_011534103.1:n.306-1773C>T
XM_011535801.2:c.306-1773C>T (ARG1)	XP_011534103.1:n.306-1773C>T
NM_000045.4:c.374C>T (ARG1) MANE Select	NP_000036.2:p.Ala125Val
NM_001244438.2:c.398C>T (ARG1)	NP_001231367.1:p.Ala133Val
NM_001270521.2:c.4077+6422G>A (MED23)	NP_001257450.1:n.4077+6422G>A
NM_001369020.1:c.306-1773C>T (ARG1)	NP_001355949.1:n.306-1773C>T
NM_015979.4:c.4095+6422G>A (MED23)	NP_057063.2:n.4095+6422G>A
NR_160934.1:n.358C>T (ARG1)