Canonical Allele Identifier: CA365653458

Gene: ARG1 MED23

Linked Data

• gnomAD v4: 6-131583758-A-T
• MyVariant Identifiers: chr6:g.131904898A>T (hg19) ; chr6:g.131583758A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583758A>T , CM000668.2:g.131583758A>T	GRCh38
NC_000006.11:g.131904898A>T , CM000668.1:g.131904898A>T	GRCh37
NC_000006.10:g.131946591A>T	NCBI36
NG_007086.2:g.15534A>T
NG_031860.1:g.49466T>A
NG_031860.2:g.49466T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.819A>T (ARG1) MANE Select	ENSP00000357066.3:p.Leu273Phe
ENST00000640973.1:c.605-44A>T (ARG1)	ENSP00000492623.1:n.605-44A>T
ENST00000672233.1:c.765A>T (ARG1)	ENSP00000499826.1:p.Leu255Phe
ENST00000673234.1:c.*706A>T (ARG1)	ENSP00000499885.1:n.*706A>T
ENST00000673427.1:c.564A>T (ARG1)	ENSP00000500160.1:p.Leu188Phe
ENST00000354577.8:c.4095+3951T>A (MED23)	ENSP00000346588.4:n.4095+3951T>A
ENST00000356962.2:c.843A>T (ARG1)	ENSP00000349446.2:p.Leu281Phe
ENST00000368087.7:c.819A>T (ARG1)	ENSP00000357066.3:p.Leu273Phe
NM_000045.3:c.819A>T (ARG1)	NP_000036.2:p.Leu273Phe
NM_001244438.1:c.843A>T (ARG1)	NP_001231367.1:p.Leu281Phe
NM_001270521.1:c.4077+3951T>A (MED23)	NP_001257450.1:n.4077+3951T>A
NM_015979.3:c.4095+3951T>A (MED23)	NP_057063.2:n.4095+3951T>A
XM_011535801.1:c.564A>T (ARG1)	XP_011534103.1:p.Leu188Phe
XM_011535801.2:c.564A>T (ARG1)	XP_011534103.1:p.Leu188Phe
NM_000045.4:c.819A>T (ARG1) MANE Select	NP_000036.2:p.Leu273Phe
NM_001244438.2:c.843A>T (ARG1)	NP_001231367.1:p.Leu281Phe
NM_001270521.2:c.4077+3951T>A (MED23)	NP_001257450.1:n.4077+3951T>A
NM_001369020.1:c.564A>T (ARG1)	NP_001355949.1:p.Leu188Phe
NM_015979.4:c.4095+3951T>A (MED23)	NP_057063.2:n.4095+3951T>A
NR_160934.1:n.803A>T (ARG1)