Canonical Allele Identifier: CA502026765

Gene: COG1

Linked Data

• gnomAD v4: 17-73193294-G-T
• MyVariant Identifiers: chr17:g.71189433G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73193294G>T , CM000679.2:g.73193294G>T	GRCh38
NC_000017.10:g.71189433G>T , CM000679.1:g.71189433G>T	GRCh37
NC_000017.9:g.68701028G>T	NCBI36
NG_008971.1:g.5261G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299886.9:c.225G>T MANE Select	ENSP00000299886.4:p.Gly75=
ENST00000299886.8:c.225G>T	ENSP00000299886.4:p.Gly75=
ENST00000438720.7:c.223G>T
ENST00000582587.2:c.202G>T
ENST00000618996.4:c.225G>T	ENSP00000479450.1:p.Gly75=
NM_018714.2:c.225G>T	NP_061184.1:p.Gly75=
NM_018714.3:c.225G>T MANE Select	NP_061184.1:p.Gly75=