Canonical Allele Identifier: CA400882848
Gene: COG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.71192671T>A (hg19) chr17:g.73196532T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196532T>A , CM000679.2:g.73196532T>A GRCh38
NC_000017.10:g.71192671T>A , CM000679.1:g.71192671T>A GRCh37
NC_000017.9:g.68704266T>A NCBI36
NG_008971.1:g.8499T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.341T>A MANE Select ENSP00000299886.4:p.Phe114Tyr
ENST00000299886.8:c.341T>A ENSP00000299886.4:p.Phe114Tyr
ENST00000438720.7:c.339T>A
ENST00000582587.2:c.338T>A
ENST00000618996.4:c.341T>A ENSP00000479450.1:p.Phe114Tyr
NM_018714.2:c.341T>A NP_061184.1:p.Phe114Tyr
NM_018714.3:c.341T>A MANE Select NP_061184.1:p.Phe114Tyr
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