Canonical Allele Identifier: CA365650910
Community Standard Title: NM_000045.4(ARG1):c.317G>A (p.Gly106Glu)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131581230G>A , CM000668.2:g.131581230G>A GRCh38
NC_000006.11:g.131902370G>A , CM000668.1:g.131902370G>A GRCh37
NC_000006.10:g.131944063G>A NCBI36
NG_007086.2:g.13006G>A
NG_031860.1:g.51994C>T
NG_031860.2:g.51994C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000045.4:c.317G>A (ARG1) MANE Select NP_000036.2:p.Gly106Glu
ENST00000368087.8:c.317G>A (ARG1) MANE Select ENSP00000357066.3:p.Gly106Glu
NM_000045.3:c.317G>A (ARG1) NP_000036.2:p.Gly106Glu
NM_001244438.1:c.341G>A (ARG1) NP_001231367.1:p.Gly114Glu
NM_001244438.2:c.341G>A (ARG1) NP_001231367.1:p.Gly114Glu
NM_001270521.1:c.4077+6479C>T (MED23) NP_001257450.1:n.4077+6479C>T
NM_001270521.2:c.4077+6479C>T (MED23) NP_001257450.1:n.4077+6479C>T
NM_001369020.1:c.306-1830G>A (ARG1) NP_001355949.1:n.306-1830G>A
NM_015979.3:c.4095+6479C>T (MED23) NP_057063.2:n.4095+6479C>T
NM_015979.4:c.4095+6479C>T (MED23) NP_057063.2:n.4095+6479C>T
NR_160934.1:n.301G>A (ARG1)
ENST00000275196.5:n.301G>A (ARG1)
ENST00000354577.8:c.4095+6479C>T (MED23) ENSP00000346588.4:n.4095+6479C>T
ENST00000356962.2:c.341G>A (ARG1) ENSP00000349446.2:p.Gly114Glu
ENST00000368087.7:c.317G>A (ARG1) ENSP00000357066.3:p.Gly106Glu
ENST00000640973.1:c.317G>A (ARG1) ENSP00000492623.1:p.Gly106Glu
ENST00000672233.1:c.263G>A (ARG1) ENSP00000499826.1:p.Gly88Glu
ENST00000673234.1:c.*204G>A (ARG1) ENSP00000499885.1:n.*204G>A
ENST00000673427.1:c.306-1830G>A (ARG1) ENSP00000500160.1:n.306-1830G>A
XM_011535801.1:c.306-1830G>A (ARG1) XP_011534103.1:n.306-1830G>A
XM_011535801.2:c.306-1830G>A (ARG1) XP_011534103.1:n.306-1830G>A