Canonical Allele Identifier: CA365651035

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131581289C>G , CM000668.2:g.131581289C>G GRCh38
NC_000006.11:g.131902429C>G , CM000668.1:g.131902429C>G GRCh37
NC_000006.10:g.131944122C>G NCBI36
NG_007086.2:g.13065C>G
NG_031860.1:g.51935G>C
NG_031860.2:g.51935G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368087.8:c.376C>G (ARG1) MANE Select ENSP00000357066.3:p.His126Asp
ENST00000640973.1:c.376C>G (ARG1) ENSP00000492623.1:p.His126Asp
ENST00000672233.1:c.322C>G (ARG1) ENSP00000499826.1:p.His108Asp
ENST00000673234.1:c.*263C>G (ARG1) ENSP00000499885.1:n.*263C>G
ENST00000673427.1:c.306-1771C>G (ARG1) ENSP00000500160.1:n.306-1771C>G
ENST00000275196.5:n.360C>G (ARG1)
ENST00000354577.8:c.4095+6420G>C (MED23) ENSP00000346588.4:n.4095+6420G>C
ENST00000356962.2:c.400C>G (ARG1) ENSP00000349446.2:p.His134Asp
ENST00000368087.7:c.376C>G (ARG1) ENSP00000357066.3:p.His126Asp
NM_000045.3:c.376C>G (ARG1) NP_000036.2:p.His126Asp
NM_001244438.1:c.400C>G (ARG1) NP_001231367.1:p.His134Asp
NM_001270521.1:c.4077+6420G>C (MED23) NP_001257450.1:n.4077+6420G>C
NM_015979.3:c.4095+6420G>C (MED23) NP_057063.2:n.4095+6420G>C
XM_011535801.1:c.306-1771C>G (ARG1) XP_011534103.1:n.306-1771C>G
XM_011535801.2:c.306-1771C>G (ARG1) XP_011534103.1:n.306-1771C>G
NM_000045.4:c.376C>G (ARG1) MANE Select NP_000036.2:p.His126Asp
NM_001244438.2:c.400C>G (ARG1) NP_001231367.1:p.His134Asp
NM_001270521.2:c.4077+6420G>C (MED23) NP_001257450.1:n.4077+6420G>C
NM_001369020.1:c.306-1771C>G (ARG1) NP_001355949.1:n.306-1771C>G
NM_015979.4:c.4095+6420G>C (MED23) NP_057063.2:n.4095+6420G>C
NR_160934.1:n.360C>G (ARG1)