Canonical Allele Identifier: CA339968

Linked Data

ClinVar Variation Id: 2388
ClinVar RCV Id: RCV000002489
dbSNP Id: rs104893940

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583810C>T , CM000668.2:g.131583810C>T GRCh38
NC_000006.11:g.131904950C>T , CM000668.1:g.131904950C>T GRCh37
NC_000006.10:g.131946643C>T NCBI36
NG_007086.2:g.15586C>T
NG_031860.1:g.49414G>A
NG_031860.2:g.49414G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000354577.8:c.4095+3899G>A ENSP00000346588.4:p.=
ENST00000356962.2:c.895C>T ENSP00000349446.2:p.Arg299Ter
ENST00000368087.7:c.871C>T ENSP00000357066.3:p.Arg291Ter
NM_000045.3:c.871C>T (ARG1) NP_000036.2:p.Arg291Ter
NM_001244438.1:c.895C>T (ARG1) NP_001231367.1:p.Arg299Ter
NM_001270521.1:c.4077+3899G>A (MED23) NP_001257450.1:p.=
NM_015979.3:c.4095+3899G>A (MED23) NP_057063.2:p.=
XM_011535801.1:c.616C>T (ARG1) XP_011534103.1:p.Arg206Ter
XM_011535801.2:c.616C>T (ARG1) XP_011534103.1:p.Arg206Ter
NM_000045.4:c.871C>T (ARG1) MANE Select NP_000036.2:p.Arg291Ter
NM_001244438.2:c.895C>T (ARG1) NP_001231367.1:p.Arg299Ter
NM_001270521.2:c.4077+3899G>A (MED23) NP_001257450.1:p.=
NM_001369020.1:c.616C>T (ARG1) NP_001355949.1:p.Arg206Ter
NM_015979.4:c.4095+3899G>A (MED23) NP_057063.2:p.=