Canonical Allele Identifier: CA365652690

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583434G>T , CM000668.2:g.131583434G>T	GRCh38
NC_000006.11:g.131904574G>T , CM000668.1:g.131904574G>T	GRCh37
NC_000006.10:g.131946267G>T	NCBI36
NG_007086.2:g.15210G>T
NG_031860.1:g.49790C>A
NG_031860.2:g.49790C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000045.4:c.745G>T (ARG1) MANE Select	NP_000036.2:p.Val249Leu
ENST00000368087.8:c.745G>T (ARG1) MANE Select	ENSP00000357066.3:p.Val249Leu
NM_000045.3:c.745G>T (ARG1)	NP_000036.2:p.Val249Leu
NM_001244438.1:c.769G>T (ARG1)	NP_001231367.1:p.Val257Leu
NM_001244438.2:c.769G>T (ARG1)	NP_001231367.1:p.Val257Leu
NM_001270521.1:c.4077+4275C>A (MED23)	NP_001257450.1:n.4077+4275C>A
NM_001270521.2:c.4077+4275C>A (MED23)	NP_001257450.1:n.4077+4275C>A
NM_001369020.1:c.490G>T (ARG1)	NP_001355949.1:p.Val164Leu
NM_015979.3:c.4095+4275C>A (MED23)	NP_057063.2:n.4095+4275C>A
NM_015979.4:c.4095+4275C>A (MED23)	NP_057063.2:n.4095+4275C>A
NR_160934.1:n.729G>T (ARG1)
ENST00000354577.8:c.4095+4275C>A (MED23)	ENSP00000346588.4:n.4095+4275C>A
ENST00000356962.2:c.769G>T (ARG1)	ENSP00000349446.2:p.Val257Leu
ENST00000368087.7:c.745G>T (ARG1)	ENSP00000357066.3:p.Val249Leu
ENST00000640973.1:c.604+331G>T (ARG1)	ENSP00000492623.1:n.604+331G>T
ENST00000672233.1:c.691G>T (ARG1)	ENSP00000499826.1:p.Val231Leu
ENST00000673234.1:c.*632G>T (ARG1)	ENSP00000499885.1:n.*632G>T
ENST00000673427.1:c.490G>T (ARG1)	ENSP00000500160.1:p.Val164Leu
XM_011535801.1:c.490G>T (ARG1)	XP_011534103.1:p.Val164Leu
XM_011535801.2:c.490G>T (ARG1)	XP_011534103.1:p.Val164Leu