Canonical Allele Identifier: CA365651291

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131582646G>A , CM000668.2:g.131582646G>A	GRCh38
NC_000006.11:g.131903786G>A , CM000668.1:g.131903786G>A	GRCh37
NC_000006.10:g.131945479G>A	NCBI36
NG_007086.2:g.14422G>A
NG_031860.1:g.50578C>T
NG_031860.2:g.50578C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000045.4:c.491G>A (ARG1) MANE Select	NP_000036.2:p.Trp164Ter
ENST00000368087.8:c.491G>A (ARG1) MANE Select	ENSP00000357066.3:p.Trp164Ter
NM_000045.3:c.491G>A (ARG1)	NP_000036.2:p.Trp164Ter
NM_001244438.1:c.515G>A (ARG1)	NP_001231367.1:p.Trp172Ter
NM_001244438.2:c.515G>A (ARG1)	NP_001231367.1:p.Trp172Ter
NM_001270521.1:c.4077+5063C>T (MED23)	NP_001257450.1:n.4077+5063C>T
NM_001270521.2:c.4077+5063C>T (MED23)	NP_001257450.1:n.4077+5063C>T
NM_001369020.1:c.306-414G>A (ARG1)	NP_001355949.1:n.306-414G>A
NM_015979.3:c.4095+5063C>T (MED23)	NP_057063.2:n.4095+5063C>T
NM_015979.4:c.4095+5063C>T (MED23)	NP_057063.2:n.4095+5063C>T
NR_160934.1:n.475G>A (ARG1)
ENST00000275196.5:n.475G>A (ARG1)
ENST00000354577.8:c.4095+5063C>T (MED23)	ENSP00000346588.4:n.4095+5063C>T
ENST00000356962.2:c.515G>A (ARG1)	ENSP00000349446.2:p.Trp172Ter
ENST00000368087.7:c.491G>A (ARG1)	ENSP00000357066.3:p.Trp164Ter
ENST00000640973.1:c.491G>A (ARG1)	ENSP00000492623.1:p.Trp164Ter
ENST00000672233.1:c.437G>A (ARG1)	ENSP00000499826.1:p.Trp146Ter
ENST00000673234.1:c.*378G>A (ARG1)	ENSP00000499885.1:n.*378G>A
ENST00000673427.1:c.306-414G>A (ARG1)	ENSP00000500160.1:n.306-414G>A
XM_011535801.1:c.306-414G>A (ARG1)	XP_011534103.1:n.306-414G>A
XM_011535801.2:c.306-414G>A (ARG1)	XP_011534103.1:n.306-414G>A