Canonical Allele Identifier: CA365653559

Gene: ARG1 MED23

Linked Data

• dbSNP Id: rs763302987
• gnomAD v3: 6-131583780-T-A
• gnomAD v4: 6-131583780-T-A
• MyVariant Identifiers: chr6:g.131904920T>A (hg19) ; chr6:g.131583780T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583780T>A , CM000668.2:g.131583780T>A	GRCh38
NC_000006.11:g.131904920T>A , CM000668.1:g.131904920T>A	GRCh37
NC_000006.10:g.131946613T>A	NCBI36
NG_007086.2:g.15556T>A
NG_031860.1:g.49444A>T
NG_031860.2:g.49444A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.841T>A (ARG1) MANE Select	ENSP00000357066.3:p.Ser281Thr
ENST00000640973.1:c.605-22T>A (ARG1)	ENSP00000492623.1:n.605-22T>A
ENST00000672233.1:c.787T>A (ARG1)	ENSP00000499826.1:p.Ser263Thr
ENST00000673234.1:c.*728T>A (ARG1)	ENSP00000499885.1:n.*728T>A
ENST00000673427.1:c.586T>A (ARG1)	ENSP00000500160.1:p.Ser196Thr
ENST00000354577.8:c.4095+3929A>T (MED23)	ENSP00000346588.4:n.4095+3929A>T
ENST00000356962.2:c.865T>A (ARG1)	ENSP00000349446.2:p.Ser289Thr
ENST00000368087.7:c.841T>A (ARG1)	ENSP00000357066.3:p.Ser281Thr
NM_000045.3:c.841T>A (ARG1)	NP_000036.2:p.Ser281Thr
NM_001244438.1:c.865T>A (ARG1)	NP_001231367.1:p.Ser289Thr
NM_001270521.1:c.4077+3929A>T (MED23)	NP_001257450.1:n.4077+3929A>T
NM_015979.3:c.4095+3929A>T (MED23)	NP_057063.2:n.4095+3929A>T
XM_011535801.1:c.586T>A (ARG1)	XP_011534103.1:p.Ser196Thr
XM_011535801.2:c.586T>A (ARG1)	XP_011534103.1:p.Ser196Thr
NM_000045.4:c.841T>A (ARG1) MANE Select	NP_000036.2:p.Ser281Thr
NM_001244438.2:c.865T>A (ARG1)	NP_001231367.1:p.Ser289Thr
NM_001270521.2:c.4077+3929A>T (MED23)	NP_001257450.1:n.4077+3929A>T
NM_001369020.1:c.586T>A (ARG1)	NP_001355949.1:p.Ser196Thr
NM_015979.4:c.4095+3929A>T (MED23)	NP_057063.2:n.4095+3929A>T
NR_160934.1:n.825T>A (ARG1)