Canonical Allele Identifier: CA502026734
Gene: COG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.71189383C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73193244C>T , CM000679.2:g.73193244C>T GRCh38
NC_000017.10:g.71189383C>T , CM000679.1:g.71189383C>T GRCh37
NC_000017.9:g.68700978C>T NCBI36
NG_008971.1:g.5211C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.175C>T MANE Select ENSP00000299886.4:p.Leu59=
ENST00000299886.8:c.175C>T ENSP00000299886.4:p.Leu59=
ENST00000438720.7:c.173C>T
ENST00000582587.2:c.152C>T
ENST00000618996.4:c.175C>T ENSP00000479450.1:p.Leu59=
NM_018714.2:c.175C>T NP_061184.1:p.Leu59=
NM_018714.3:c.175C>T MANE Select NP_061184.1:p.Leu59=
Search 100 bp 5'
Search 100 bp 3'