Canonical Allele Identifier: CA452148437

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131579263C>T , CM000668.2:g.131579263C>T	GRCh38
NC_000006.11:g.131900403C>T , CM000668.1:g.131900403C>T	GRCh37
NC_000006.10:g.131942096C>T	NCBI36
NG_007086.2:g.11039C>T
NG_031860.1:g.53961G>A
NG_031860.2:g.53961G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000045.4:c.283C>T (ARG1) MANE Select	NP_000036.2:p.Leu95=
ENST00000368087.8:c.283C>T (ARG1) MANE Select	ENSP00000357066.3:p.Leu95=
NM_000045.3:c.283C>T (ARG1)	NP_000036.2:p.Leu95=
NM_001244438.1:c.307C>T (ARG1)	NP_001231367.1:p.Leu103=
NM_001244438.2:c.307C>T (ARG1)	NP_001231367.1:p.Leu103=
NM_001270521.1:c.4078-4968G>A (MED23)	NP_001257450.1:n.4078-4968G>A
NM_001270521.2:c.4078-4968G>A (MED23)	NP_001257450.1:n.4078-4968G>A
NM_001369020.1:c.283C>T (ARG1)	NP_001355949.1:p.Leu95=
NM_015979.3:c.4096-4968G>A (MED23)	NP_057063.2:n.4096-4968G>A
NM_015979.4:c.4096-4968G>A (MED23)	NP_057063.2:n.4096-4968G>A
NR_160934.1:n.267C>T (ARG1)
ENST00000275196.5:n.267C>T (ARG1)
ENST00000354577.8:c.4096-4968G>A (MED23)	ENSP00000346588.4:n.4096-4968G>A
ENST00000356962.2:c.307C>T (ARG1)	ENSP00000349446.2:p.Leu103=
ENST00000368087.7:c.283C>T (ARG1)	ENSP00000357066.3:p.Leu95=
ENST00000469293.1:n.299C>T (ARG1)
ENST00000484820.1:n.255C>T (ARG1)
ENST00000498260.1:n.324C>T (ARG1)
ENST00000640973.1:c.283C>T (ARG1)	ENSP00000492623.1:p.Leu95=
ENST00000672052.1:n.530C>T (ARG1)
ENST00000672233.1:c.229C>T (ARG1)	ENSP00000499826.1:p.Leu77=
ENST00000673234.1:c.*170C>T (ARG1)	ENSP00000499885.1:n.*170C>T
ENST00000673427.1:c.283C>T (ARG1)	ENSP00000500160.1:p.Leu95=
XM_011535801.1:c.283C>T (ARG1)	XP_011534103.1:p.Leu95=
XM_011535801.2:c.283C>T (ARG1)	XP_011534103.1:p.Leu95=