Canonical Allele Identifier: CA365649909

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131576735G>C , CM000668.2:g.131576735G>C	GRCh38
NC_000006.11:g.131897875G>C , CM000668.1:g.131897875G>C	GRCh37
NC_000006.10:g.131939568G>C	NCBI36
NG_007086.2:g.8511G>C
NG_031860.1:g.56489C>G
NG_031860.2:g.56489C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000045.4:c.130G>C (ARG1) MANE Select	NP_000036.2:p.Glu44Gln
ENST00000368087.8:c.130G>C (ARG1) MANE Select	ENSP00000357066.3:p.Glu44Gln
NM_000045.3:c.130G>C (ARG1)	NP_000036.2:p.Glu44Gln
NM_001244438.1:c.130G>C (ARG1)	NP_001231367.1:p.Val44Leu
NM_001244438.2:c.130G>C (ARG1)	NP_001231367.1:p.Val44Leu
NM_001270521.1:c.4078-2440C>G (MED23)	NP_001257450.1:n.4078-2440C>G
NM_001270521.2:c.4078-2440C>G (MED23)	NP_001257450.1:n.4078-2440C>G
NM_001369020.1:c.130G>C (ARG1)	NP_001355949.1:p.Glu44Gln
NM_015979.3:c.4096-2440C>G (MED23)	NP_057063.2:n.4096-2440C>G
NM_015979.4:c.4096-2440C>G (MED23)	NP_057063.2:n.4096-2440C>G
NR_160934.1:n.115-2376G>C (ARG1)
ENST00000275196.5:n.115-2376G>C (ARG1)
ENST00000354577.8:c.4096-2440C>G (MED23)	ENSP00000346588.4:n.4096-2440C>G
ENST00000356962.2:c.130G>C (ARG1)	ENSP00000349446.2:p.Val44Leu
ENST00000368087.7:c.130G>C (ARG1)	ENSP00000357066.3:p.Glu44Gln
ENST00000469293.1:n.147-2376G>C (ARG1)
ENST00000484820.1:n.102G>C (ARG1)
ENST00000498260.1:n.171G>C (ARG1)
ENST00000640973.1:c.130G>C (ARG1)	ENSP00000492623.1:p.Glu44Gln
ENST00000672052.1:n.377G>C (ARG1)
ENST00000672233.1:c.77-2376G>C (ARG1)	ENSP00000499826.1:n.77-2376G>C
ENST00000673234.1:c.*17G>C (ARG1)	ENSP00000499885.1:n.*17G>C
ENST00000673427.1:c.130G>C (ARG1)	ENSP00000500160.1:p.Glu44Gln
XM_011535801.1:c.130G>C (ARG1)	XP_011534103.1:p.Glu44Gln
XM_011535801.2:c.130G>C (ARG1)	XP_011534103.1:p.Glu44Gln