Canonical Allele Identifier: CA400882878
Gene: COG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.71192677G>C (hg19) chr17:g.73196538G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196538G>C , CM000679.2:g.73196538G>C GRCh38
NC_000017.10:g.71192677G>C , CM000679.1:g.71192677G>C GRCh37
NC_000017.9:g.68704272G>C NCBI36
NG_008971.1:g.8505G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.347G>C MANE Select ENSP00000299886.4:p.Ser116Thr
ENST00000299886.8:c.347G>C ENSP00000299886.4:p.Ser116Thr
ENST00000438720.7:c.345G>C
ENST00000582587.2:c.344G>C
ENST00000618996.4:c.347G>C ENSP00000479450.1:p.Ser116Thr
NM_018714.2:c.347G>C NP_061184.1:p.Ser116Thr
NM_018714.3:c.347G>C MANE Select NP_061184.1:p.Ser116Thr
Search 100 bp 5'
Search 100 bp 3'