Canonical Allele Identifier: CA365653415

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583748T>A , CM000668.2:g.131583748T>A GRCh38
NC_000006.11:g.131904888T>A , CM000668.1:g.131904888T>A GRCh37
NC_000006.10:g.131946581T>A NCBI36
NG_007086.2:g.15524T>A
NG_031860.1:g.49476A>T
NG_031860.2:g.49476A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368087.8:c.809T>A (ARG1) MANE Select ENSP00000357066.3:p.Leu270His
ENST00000640973.1:c.605-54T>A (ARG1) ENSP00000492623.1:n.605-54T>A
ENST00000672233.1:c.755T>A (ARG1) ENSP00000499826.1:p.Leu252His
ENST00000673234.1:c.*696T>A (ARG1) ENSP00000499885.1:n.*696T>A
ENST00000673427.1:c.554T>A (ARG1) ENSP00000500160.1:p.Leu185His
ENST00000354577.8:c.4095+3961A>T (MED23) ENSP00000346588.4:n.4095+3961A>T
ENST00000356962.2:c.833T>A (ARG1) ENSP00000349446.2:p.Leu278His
ENST00000368087.7:c.809T>A (ARG1) ENSP00000357066.3:p.Leu270His
NM_000045.3:c.809T>A (ARG1) NP_000036.2:p.Leu270His
NM_001244438.1:c.833T>A (ARG1) NP_001231367.1:p.Leu278His
NM_001270521.1:c.4077+3961A>T (MED23) NP_001257450.1:n.4077+3961A>T
NM_015979.3:c.4095+3961A>T (MED23) NP_057063.2:n.4095+3961A>T
XM_011535801.1:c.554T>A (ARG1) XP_011534103.1:p.Leu185His
XM_011535801.2:c.554T>A (ARG1) XP_011534103.1:p.Leu185His
NM_000045.4:c.809T>A (ARG1) MANE Select NP_000036.2:p.Leu270His
NM_001244438.2:c.833T>A (ARG1) NP_001231367.1:p.Leu278His
NM_001270521.2:c.4077+3961A>T (MED23) NP_001257450.1:n.4077+3961A>T
NM_001369020.1:c.554T>A (ARG1) NP_001355949.1:p.Leu185His
NM_015979.4:c.4095+3961A>T (MED23) NP_057063.2:n.4095+3961A>T
NR_160934.1:n.793T>A (ARG1)