Canonical Allele Identifier: CA365650207

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131579110G>C , CM000668.2:g.131579110G>C	GRCh38
NC_000006.11:g.131900250G>C , CM000668.1:g.131900250G>C	GRCh37
NC_000006.10:g.131941943G>C	NCBI36
NG_007086.2:g.10886G>C
NG_031860.1:g.54114C>G
NG_031860.2:g.54114C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.131-1G>C (ARG1) MANE Select	ENSP00000357066.3:n.131-1G>C
ENST00000640973.1:c.131-1G>C (ARG1)	ENSP00000492623.1:n.131-1G>C
ENST00000672052.1:n.378-1G>C (ARG1)
ENST00000672233.1:c.77-1G>C (ARG1)	ENSP00000499826.1:n.77-1G>C
ENST00000673234.1:c.*18-1G>C (ARG1)	ENSP00000499885.1:n.*18-1G>C
ENST00000673427.1:c.131-1G>C (ARG1)	ENSP00000500160.1:n.131-1G>C
ENST00000275196.5:n.115-1G>C (ARG1)
ENST00000354577.8:c.4096-4815C>G (MED23)	ENSP00000346588.4:n.4096-4815C>G
ENST00000356962.2:c.154G>C (ARG1)	ENSP00000349446.2:p.Glu52Gln
ENST00000368087.7:c.131-1G>C (ARG1)	ENSP00000357066.3:n.131-1G>C
ENST00000469293.1:n.147-1G>C (ARG1)
ENST00000484820.1:n.103-1G>C (ARG1)
ENST00000498260.1:n.172-1G>C (ARG1)
NM_000045.3:c.131-1G>C (ARG1)	NP_000036.2:n.131-1G>C
NM_001244438.1:c.154G>C (ARG1)	NP_001231367.1:p.Glu52Gln
NM_001270521.1:c.4078-4815C>G (MED23)	NP_001257450.1:n.4078-4815C>G
NM_015979.3:c.4096-4815C>G (MED23)	NP_057063.2:n.4096-4815C>G
XM_011535801.1:c.131-1G>C (ARG1)	XP_011534103.1:n.131-1G>C
XM_011535801.2:c.131-1G>C (ARG1)	XP_011534103.1:n.131-1G>C
NM_000045.4:c.131-1G>C (ARG1) MANE Select	NP_000036.2:n.131-1G>C
NM_001244438.2:c.154G>C (ARG1)	NP_001231367.1:p.Glu52Gln
NM_001270521.2:c.4078-4815C>G (MED23)	NP_001257450.1:n.4078-4815C>G
NM_001369020.1:c.131-1G>C (ARG1)	NP_001355949.1:n.131-1G>C
NM_015979.4:c.4096-4815C>G (MED23)	NP_057063.2:n.4096-4815C>G
NR_160934.1:n.115-1G>C (ARG1)