Canonical Allele Identifier: CA400883296
Gene: COG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.71192755A>G (hg19) chr17:g.73196616A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196616A>G , CM000679.2:g.73196616A>G GRCh38
NC_000017.10:g.71192755A>G , CM000679.1:g.71192755A>G GRCh37
NC_000017.9:g.68704350A>G NCBI36
NG_008971.1:g.8583A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.425A>G MANE Select ENSP00000299886.4:p.His142Arg
ENST00000299886.8:c.425A>G ENSP00000299886.4:p.His142Arg
ENST00000438720.7:c.423A>G
ENST00000582587.2:c.422A>G
ENST00000618996.4:c.425A>G ENSP00000479450.1:p.His142Arg
NM_018714.2:c.425A>G NP_061184.1:p.His142Arg
NM_018714.3:c.425A>G MANE Select NP_061184.1:p.His142Arg
Search 100 bp 5'
Search 100 bp 3'