Canonical Allele Identifier: CA365653431

Gene: ARG1 MED23

Linked Data

• gnomAD v4: 6-131583753-G-C
• MyVariant Identifiers: chr6:g.131904893G>C (hg19) ; chr6:g.131583753G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583753G>C , CM000668.2:g.131583753G>C	GRCh38
NC_000006.11:g.131904893G>C , CM000668.1:g.131904893G>C	GRCh37
NC_000006.10:g.131946586G>C	NCBI36
NG_007086.2:g.15529G>C
NG_031860.1:g.49471C>G
NG_031860.2:g.49471C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.814G>C (ARG1) MANE Select	ENSP00000357066.3:p.Gly272Arg
ENST00000640973.1:c.605-49G>C (ARG1)	ENSP00000492623.1:n.605-49G>C
ENST00000672233.1:c.760G>C (ARG1)	ENSP00000499826.1:p.Gly254Arg
ENST00000673234.1:c.*701G>C (ARG1)	ENSP00000499885.1:n.*701G>C
ENST00000673427.1:c.559G>C (ARG1)	ENSP00000500160.1:p.Gly187Arg
ENST00000354577.8:c.4095+3956C>G (MED23)	ENSP00000346588.4:n.4095+3956C>G
ENST00000356962.2:c.838G>C (ARG1)	ENSP00000349446.2:p.Gly280Arg
ENST00000368087.7:c.814G>C (ARG1)	ENSP00000357066.3:p.Gly272Arg
NM_000045.3:c.814G>C (ARG1)	NP_000036.2:p.Gly272Arg
NM_001244438.1:c.838G>C (ARG1)	NP_001231367.1:p.Gly280Arg
NM_001270521.1:c.4077+3956C>G (MED23)	NP_001257450.1:n.4077+3956C>G
NM_015979.3:c.4095+3956C>G (MED23)	NP_057063.2:n.4095+3956C>G
XM_011535801.1:c.559G>C (ARG1)	XP_011534103.1:p.Gly187Arg
XM_011535801.2:c.559G>C (ARG1)	XP_011534103.1:p.Gly187Arg
NM_000045.4:c.814G>C (ARG1) MANE Select	NP_000036.2:p.Gly272Arg
NM_001244438.2:c.838G>C (ARG1)	NP_001231367.1:p.Gly280Arg
NM_001270521.2:c.4077+3956C>G (MED23)	NP_001257450.1:n.4077+3956C>G
NM_001369020.1:c.559G>C (ARG1)	NP_001355949.1:p.Gly187Arg
NM_015979.4:c.4095+3956C>G (MED23)	NP_057063.2:n.4095+3956C>G
NR_160934.1:n.798G>C (ARG1)