Canonical Allele Identifier: CA452153327

Linked Data

MyVariant Identifiers: chr6:g.131904958G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583818G>A , CM000668.2:g.131583818G>A GRCh38
NC_000006.11:g.131904958G>A , CM000668.1:g.131904958G>A GRCh37
NC_000006.10:g.131946651G>A NCBI36
NG_007086.2:g.15594G>A
NG_031860.1:g.49406C>T
NG_031860.2:g.49406C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368087.8:c.879G>A (ARG1) MANE Select ENSP00000357066.3:p.Val293=
ENST00000640973.1:c.621G>A (ARG1) ENSP00000492623.1:p.Val207=
ENST00000672233.1:c.825G>A (ARG1) ENSP00000499826.1:p.Val275=
ENST00000673234.1:c.*766G>A (ARG1) ENSP00000499885.1:n.*766G>A
ENST00000673427.1:c.624G>A (ARG1) ENSP00000500160.1:p.Val208=
ENST00000354577.8:c.4095+3891C>T (MED23) ENSP00000346588.4:n.4095+3891C>T
ENST00000356962.2:c.903G>A (ARG1) ENSP00000349446.2:p.Val301=
ENST00000368087.7:c.879G>A (ARG1) ENSP00000357066.3:p.Val293=
NM_000045.3:c.879G>A (ARG1) NP_000036.2:p.Val293=
NM_001244438.1:c.903G>A (ARG1) NP_001231367.1:p.Val301=
NM_001270521.1:c.4077+3891C>T (MED23) NP_001257450.1:n.4077+3891C>T
NM_015979.3:c.4095+3891C>T (MED23) NP_057063.2:n.4095+3891C>T
XM_011535801.1:c.624G>A (ARG1) XP_011534103.1:p.Val208=
XM_011535801.2:c.624G>A (ARG1) XP_011534103.1:p.Val208=
NM_000045.4:c.879G>A (ARG1) MANE Select NP_000036.2:p.Val293=
NM_001244438.2:c.903G>A (ARG1) NP_001231367.1:p.Val301=
NM_001270521.2:c.4077+3891C>T (MED23) NP_001257450.1:n.4077+3891C>T
NM_001369020.1:c.624G>A (ARG1) NP_001355949.1:p.Val208=
NM_015979.4:c.4095+3891C>T (MED23) NP_057063.2:n.4095+3891C>T
NR_160934.1:n.863G>A (ARG1)