Canonical Allele Identifier: CA400882856
Gene: COG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.71192673T>A (hg19) chr17:g.73196534T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196534T>A , CM000679.2:g.73196534T>A GRCh38
NC_000017.10:g.71192673T>A , CM000679.1:g.71192673T>A GRCh37
NC_000017.9:g.68704268T>A NCBI36
NG_008971.1:g.8501T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.343T>A MANE Select ENSP00000299886.4:p.Tyr115Asn
ENST00000299886.8:c.343T>A ENSP00000299886.4:p.Tyr115Asn
ENST00000438720.7:c.341T>A
ENST00000582587.2:c.340T>A
ENST00000618996.4:c.343T>A ENSP00000479450.1:p.Tyr115Asn
NM_018714.2:c.343T>A NP_061184.1:p.Tyr115Asn
NM_018714.3:c.343T>A MANE Select NP_061184.1:p.Tyr115Asn
Search 100 bp 5'
Search 100 bp 3'