Canonical Allele Identifier: CA365653635

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583820A>G , CM000668.2:g.131583820A>G GRCh38
NC_000006.11:g.131904960A>G , CM000668.1:g.131904960A>G GRCh37
NC_000006.10:g.131946653A>G NCBI36
NG_007086.2:g.15596A>G
NG_031860.1:g.49404T>C
NG_031860.2:g.49404T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368087.8:c.881A>G (ARG1) MANE Select ENSP00000357066.3:p.Asn294Ser
ENST00000640973.1:c.623A>G (ARG1) ENSP00000492623.1:p.Asn208Ser
ENST00000672233.1:c.827A>G (ARG1) ENSP00000499826.1:p.Asn276Ser
ENST00000673234.1:c.*768A>G (ARG1) ENSP00000499885.1:n.*768A>G
ENST00000673427.1:c.626A>G (ARG1) ENSP00000500160.1:p.Asn209Ser
ENST00000354577.8:c.4095+3889T>C (MED23) ENSP00000346588.4:n.4095+3889T>C
ENST00000356962.2:c.905A>G (ARG1) ENSP00000349446.2:p.Asn302Ser
ENST00000368087.7:c.881A>G (ARG1) ENSP00000357066.3:p.Asn294Ser
NM_000045.3:c.881A>G (ARG1) NP_000036.2:p.Asn294Ser
NM_001244438.1:c.905A>G (ARG1) NP_001231367.1:p.Asn302Ser
NM_001270521.1:c.4077+3889T>C (MED23) NP_001257450.1:n.4077+3889T>C
NM_015979.3:c.4095+3889T>C (MED23) NP_057063.2:n.4095+3889T>C
XM_011535801.1:c.626A>G (ARG1) XP_011534103.1:p.Asn209Ser
XM_011535801.2:c.626A>G (ARG1) XP_011534103.1:p.Asn209Ser
NM_000045.4:c.881A>G (ARG1) MANE Select NP_000036.2:p.Asn294Ser
NM_001244438.2:c.905A>G (ARG1) NP_001231367.1:p.Asn302Ser
NM_001270521.2:c.4077+3889T>C (MED23) NP_001257450.1:n.4077+3889T>C
NM_001369020.1:c.626A>G (ARG1) NP_001355949.1:p.Asn209Ser
NM_015979.4:c.4095+3889T>C (MED23) NP_057063.2:n.4095+3889T>C
NR_160934.1:n.865A>G (ARG1)