Canonical Allele Identifier: CA365653709

Gene: ARG1 MED23

Linked Data

• MyVariant Identifiers: chr6:g.131904998G>T (hg19) ; chr6:g.131583858G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583858G>T , CM000668.2:g.131583858G>T	GRCh38
NC_000006.11:g.131904998G>T , CM000668.1:g.131904998G>T	GRCh37
NC_000006.10:g.131946691G>T	NCBI36
NG_007086.2:g.15634G>T
NG_031860.1:g.49366C>A
NG_031860.2:g.49366C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.919G>T (ARG1) MANE Select	ENSP00000357066.3:p.Ala307Ser
ENST00000640973.1:c.661G>T (ARG1)	ENSP00000492623.1:p.Ala221Ser
ENST00000672233.1:c.865G>T (ARG1)	ENSP00000499826.1:p.Ala289Ser
ENST00000673234.1:c.*806G>T (ARG1)	ENSP00000499885.1:n.*806G>T
ENST00000673427.1:c.664G>T (ARG1)	ENSP00000500160.1:p.Ala222Ser
ENST00000354577.8:c.4095+3851C>A (MED23)	ENSP00000346588.4:n.4095+3851C>A
ENST00000356962.2:c.943G>T (ARG1)	ENSP00000349446.2:p.Ala315Ser
ENST00000368087.7:c.919G>T (ARG1)	ENSP00000357066.3:p.Ala307Ser
NM_000045.3:c.919G>T (ARG1)	NP_000036.2:p.Ala307Ser
NM_001244438.1:c.943G>T (ARG1)	NP_001231367.1:p.Ala315Ser
NM_001270521.1:c.4077+3851C>A (MED23)	NP_001257450.1:n.4077+3851C>A
NM_015979.3:c.4095+3851C>A (MED23)	NP_057063.2:n.4095+3851C>A
XM_011535801.1:c.664G>T (ARG1)	XP_011534103.1:p.Ala222Ser
XM_011535801.2:c.664G>T (ARG1)	XP_011534103.1:p.Ala222Ser
NM_000045.4:c.919G>T (ARG1) MANE Select	NP_000036.2:p.Ala307Ser
NM_001244438.2:c.943G>T (ARG1)	NP_001231367.1:p.Ala315Ser
NM_001270521.2:c.4077+3851C>A (MED23)	NP_001257450.1:n.4077+3851C>A
NM_001369020.1:c.664G>T (ARG1)	NP_001355949.1:p.Ala222Ser
NM_015979.4:c.4095+3851C>A (MED23)	NP_057063.2:n.4095+3851C>A
NR_160934.1:n.903G>T (ARG1)