Canonical Allele Identifier: CA365651229
Community Standard Title: NM_000045.4(ARG1):c.466-2A>G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131582619A>G , CM000668.2:g.131582619A>G GRCh38
NC_000006.11:g.131903759A>G , CM000668.1:g.131903759A>G GRCh37
NC_000006.10:g.131945452A>G NCBI36
NG_007086.2:g.14395A>G
NG_031860.1:g.50605T>C
NG_031860.2:g.50605T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000045.4:c.466-2A>G (ARG1) MANE Select NP_000036.2:n.466-2A>G
ENST00000368087.8:c.466-2A>G (ARG1) MANE Select ENSP00000357066.3:n.466-2A>G
NM_000045.3:c.466-2A>G (ARG1) NP_000036.2:n.466-2A>G
NM_001244438.1:c.490-2A>G (ARG1) NP_001231367.1:n.490-2A>G
NM_001244438.2:c.490-2A>G (ARG1) NP_001231367.1:n.490-2A>G
NM_001270521.1:c.4077+5090T>C (MED23) NP_001257450.1:n.4077+5090T>C
NM_001270521.2:c.4077+5090T>C (MED23) NP_001257450.1:n.4077+5090T>C
NM_001369020.1:c.306-441A>G (ARG1) NP_001355949.1:n.306-441A>G
NM_015979.3:c.4095+5090T>C (MED23) NP_057063.2:n.4095+5090T>C
NM_015979.4:c.4095+5090T>C (MED23) NP_057063.2:n.4095+5090T>C
NR_160934.1:n.450-2A>G (ARG1)
ENST00000275196.5:n.450-2A>G (ARG1)
ENST00000354577.8:c.4095+5090T>C (MED23) ENSP00000346588.4:n.4095+5090T>C
ENST00000356962.2:c.490-2A>G (ARG1) ENSP00000349446.2:n.490-2A>G
ENST00000368087.7:c.466-2A>G (ARG1) ENSP00000357066.3:n.466-2A>G
ENST00000640973.1:c.466-2A>G (ARG1) ENSP00000492623.1:n.466-2A>G
ENST00000672233.1:c.412-2A>G (ARG1) ENSP00000499826.1:n.412-2A>G
ENST00000673234.1:c.*353-2A>G (ARG1) ENSP00000499885.1:n.*353-2A>G
ENST00000673427.1:c.306-441A>G (ARG1) ENSP00000500160.1:n.306-441A>G
XM_011535801.1:c.306-441A>G (ARG1) XP_011534103.1:n.306-441A>G
XM_011535801.2:c.306-441A>G (ARG1) XP_011534103.1:n.306-441A>G