Canonical Allele Identifier: CA1664137812

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583791G= , CM000668.2:g.131583791G= GRCh38
NC_000006.11:g.131904931G= , CM000668.1:g.131904931G= GRCh37
NC_000006.10:g.131946624G= NCBI36
NG_007086.2:g.15567G=
NG_031860.1:g.49433C=
NG_031860.2:g.49433C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.852G= (ARG1) MANE Select ENSP00000357066.3:p.Lys284=
ENST00000640973.1:c.605-11G= (ARG1) ENSP00000492623.1:n.605-11G=
ENST00000672233.1:c.798G= (ARG1) ENSP00000499826.1:p.Lys266=
ENST00000673234.1:c.*739G= (ARG1) ENSP00000499885.1:n.*739G=
ENST00000673427.1:c.597G= (ARG1) ENSP00000500160.1:p.Lys199=
ENST00000354577.8:c.4095+3918C= (MED23) ENSP00000346588.4:n.4095+3918C=
ENST00000356962.2:c.876G= (ARG1) ENSP00000349446.2:p.Lys292=
ENST00000368087.7:c.852G= (ARG1) ENSP00000357066.3:p.Lys284=
NM_000045.3:c.852G= (ARG1) NP_000036.2:p.Lys284=
NM_001244438.1:c.876G= (ARG1) NP_001231367.1:p.Lys292=
NM_001270521.1:c.4077+3918C= (MED23) NP_001257450.1:n.4077+3918C=
NM_015979.3:c.4095+3918C= (MED23) NP_057063.2:n.4095+3918C=
XM_011535801.1:c.597G= (ARG1) XP_011534103.1:p.Lys199=
XM_011535801.2:c.597G= (ARG1) XP_011534103.1:p.Lys199=
NM_000045.4:c.852G= (ARG1) MANE Select NP_000036.2:p.Lys284=
NM_001244438.2:c.876G= (ARG1) NP_001231367.1:p.Lys292=
NM_001270521.2:c.4077+3918C= (MED23) NP_001257450.1:n.4077+3918C=
NM_001369020.1:c.597G= (ARG1) NP_001355949.1:p.Lys199=
NM_015979.4:c.4095+3918C= (MED23) NP_057063.2:n.4095+3918C=
NR_160934.1:n.836G= (ARG1)