Canonical Allele Identifier: CA365651021

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131581283G>A , CM000668.2:g.131581283G>A GRCh38
NC_000006.11:g.131902423G>A , CM000668.1:g.131902423G>A GRCh37
NC_000006.10:g.131944116G>A NCBI36
NG_007086.2:g.13059G>A
NG_031860.1:g.51941C>T
NG_031860.2:g.51941C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368087.8:c.370G>A (ARG1) MANE Select ENSP00000357066.3:p.Asp124Asn
ENST00000640973.1:c.370G>A (ARG1) ENSP00000492623.1:p.Asp124Asn
ENST00000672233.1:c.316G>A (ARG1) ENSP00000499826.1:p.Asp106Asn
ENST00000673234.1:c.*257G>A (ARG1) ENSP00000499885.1:n.*257G>A
ENST00000673427.1:c.306-1777G>A (ARG1) ENSP00000500160.1:n.306-1777G>A
ENST00000275196.5:n.354G>A (ARG1)
ENST00000354577.8:c.4095+6426C>T (MED23) ENSP00000346588.4:n.4095+6426C>T
ENST00000356962.2:c.394G>A (ARG1) ENSP00000349446.2:p.Asp132Asn
ENST00000368087.7:c.370G>A (ARG1) ENSP00000357066.3:p.Asp124Asn
NM_000045.3:c.370G>A (ARG1) NP_000036.2:p.Asp124Asn
NM_001244438.1:c.394G>A (ARG1) NP_001231367.1:p.Asp132Asn
NM_001270521.1:c.4077+6426C>T (MED23) NP_001257450.1:n.4077+6426C>T
NM_015979.3:c.4095+6426C>T (MED23) NP_057063.2:n.4095+6426C>T
XM_011535801.1:c.306-1777G>A (ARG1) XP_011534103.1:n.306-1777G>A
XM_011535801.2:c.306-1777G>A (ARG1) XP_011534103.1:n.306-1777G>A
NM_000045.4:c.370G>A (ARG1) MANE Select NP_000036.2:p.Asp124Asn
NM_001244438.2:c.394G>A (ARG1) NP_001231367.1:p.Asp132Asn
NM_001270521.2:c.4077+6426C>T (MED23) NP_001257450.1:n.4077+6426C>T
NM_001369020.1:c.306-1777G>A (ARG1) NP_001355949.1:n.306-1777G>A
NM_015979.4:c.4095+6426C>T (MED23) NP_057063.2:n.4095+6426C>T
NR_160934.1:n.354G>A (ARG1)