Canonical Allele Identifier: CA365653576

Gene: ARG1 MED23

Linked Data

• MyVariant Identifiers: chr6:g.131904929A>T (hg19) ; chr6:g.131583789A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583789A>T , CM000668.2:g.131583789A>T	GRCh38
NC_000006.11:g.131904929A>T , CM000668.1:g.131904929A>T	GRCh37
NC_000006.10:g.131946622A>T	NCBI36
NG_007086.2:g.15565A>T
NG_031860.1:g.49435T>A
NG_031860.2:g.49435T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.850A>T (ARG1) MANE Select	ENSP00000357066.3:p.Lys284Ter
ENST00000640973.1:c.605-13A>T (ARG1)	ENSP00000492623.1:n.605-13A>T
ENST00000672233.1:c.796A>T (ARG1)	ENSP00000499826.1:p.Lys266Ter
ENST00000673234.1:c.*737A>T (ARG1)	ENSP00000499885.1:n.*737A>T
ENST00000673427.1:c.595A>T (ARG1)	ENSP00000500160.1:p.Lys199Ter
ENST00000354577.8:c.4095+3920T>A (MED23)	ENSP00000346588.4:n.4095+3920T>A
ENST00000356962.2:c.874A>T (ARG1)	ENSP00000349446.2:p.Lys292Ter
ENST00000368087.7:c.850A>T (ARG1)	ENSP00000357066.3:p.Lys284Ter
NM_000045.3:c.850A>T (ARG1)	NP_000036.2:p.Lys284Ter
NM_001244438.1:c.874A>T (ARG1)	NP_001231367.1:p.Lys292Ter
NM_001270521.1:c.4077+3920T>A (MED23)	NP_001257450.1:n.4077+3920T>A
NM_015979.3:c.4095+3920T>A (MED23)	NP_057063.2:n.4095+3920T>A
XM_011535801.1:c.595A>T (ARG1)	XP_011534103.1:p.Lys199Ter
XM_011535801.2:c.595A>T (ARG1)	XP_011534103.1:p.Lys199Ter
NM_000045.4:c.850A>T (ARG1) MANE Select	NP_000036.2:p.Lys284Ter
NM_001244438.2:c.874A>T (ARG1)	NP_001231367.1:p.Lys292Ter
NM_001270521.2:c.4077+3920T>A (MED23)	NP_001257450.1:n.4077+3920T>A
NM_001369020.1:c.595A>T (ARG1)	NP_001355949.1:p.Lys199Ter
NM_015979.4:c.4095+3920T>A (MED23)	NP_057063.2:n.4095+3920T>A
NR_160934.1:n.834A>T (ARG1)