Canonical Allele Identifier: CA3999117
Community Standard Title: NM_000045.4(ARG1):c.23T>A (p.Ile8Lys)
Gene: ARG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131573305T>A , CM000668.2:g.131573305T>A GRCh38
NC_000006.11:g.131894445T>A , CM000668.1:g.131894445T>A GRCh37
NC_000006.10:g.131936138T>A NCBI36
NG_007086.2:g.5081T>A
NG_031860.1:g.59919A>T
NG_031860.2:g.59919A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000045.4:c.23T>A MANE Select NP_000036.2:p.Ile8Lys
ENST00000368087.8:c.23T>A MANE Select ENSP00000357066.3:p.Ile8Lys
NM_000045.3:c.23T>A NP_000036.2:p.Ile8Lys
NM_001244438.1:c.23T>A NP_001231367.1:p.Ile8Lys
NM_001244438.2:c.23T>A NP_001231367.1:p.Ile8Lys
NM_001369020.1:c.23T>A NP_001355949.1:p.Ile8Lys
NR_160934.1:n.80T>A
ENST00000275196.5:n.80T>A
ENST00000356962.2:c.23T>A ENSP00000349446.2:p.Ile8Lys
ENST00000368087.7:c.23T>A ENSP00000357066.3:p.Ile8Lys
ENST00000469293.1:n.112T>A
ENST00000498260.1:n.64T>A
ENST00000640973.1:c.23T>A ENSP00000492623.1:p.Ile8Lys
ENST00000672052.1:n.305-3358T>A
ENST00000672233.1:c.77-5806T>A ENSP00000499826.1:n.77-5806T>A
ENST00000673234.1:c.77-3358T>A ENSP00000499885.1:n.77-3358T>A
ENST00000673427.1:c.23T>A ENSP00000500160.1:p.Ile8Lys
XM_011535801.1:c.23T>A XP_011534103.1:p.Ile8Lys
XM_011535801.2:c.23T>A XP_011534103.1:p.Ile8Lys