Canonical Allele Identifier: CA365653667

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583837A>T , CM000668.2:g.131583837A>T GRCh38
NC_000006.11:g.131904977A>T , CM000668.1:g.131904977A>T GRCh37
NC_000006.10:g.131946670A>T NCBI36
NG_007086.2:g.15613A>T
NG_031860.1:g.49387T>A
NG_031860.2:g.49387T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.898A>T (ARG1) MANE Select ENSP00000357066.3:p.Thr300Ser
ENST00000640973.1:c.640A>T (ARG1) ENSP00000492623.1:p.Thr214Ser
ENST00000672233.1:c.844A>T (ARG1) ENSP00000499826.1:p.Thr282Ser
ENST00000673234.1:c.*785A>T (ARG1) ENSP00000499885.1:n.*785A>T
ENST00000673427.1:c.643A>T (ARG1) ENSP00000500160.1:p.Thr215Ser
ENST00000354577.8:c.4095+3872T>A (MED23) ENSP00000346588.4:n.4095+3872T>A
ENST00000356962.2:c.922A>T (ARG1) ENSP00000349446.2:p.Thr308Ser
ENST00000368087.7:c.898A>T (ARG1) ENSP00000357066.3:p.Thr300Ser
NM_000045.3:c.898A>T (ARG1) NP_000036.2:p.Thr300Ser
NM_001244438.1:c.922A>T (ARG1) NP_001231367.1:p.Thr308Ser
NM_001270521.1:c.4077+3872T>A (MED23) NP_001257450.1:n.4077+3872T>A
NM_015979.3:c.4095+3872T>A (MED23) NP_057063.2:n.4095+3872T>A
XM_011535801.1:c.643A>T (ARG1) XP_011534103.1:p.Thr215Ser
XM_011535801.2:c.643A>T (ARG1) XP_011534103.1:p.Thr215Ser
NM_000045.4:c.898A>T (ARG1) MANE Select NP_000036.2:p.Thr300Ser
NM_001244438.2:c.922A>T (ARG1) NP_001231367.1:p.Thr308Ser
NM_001270521.2:c.4077+3872T>A (MED23) NP_001257450.1:n.4077+3872T>A
NM_001369020.1:c.643A>T (ARG1) NP_001355949.1:p.Thr215Ser
NM_015979.4:c.4095+3872T>A (MED23) NP_057063.2:n.4095+3872T>A
NR_160934.1:n.882A>T (ARG1)