Canonical Allele Identifier: CA397952501

Gene: GUCY2D

Linked Data

• MyVariant Identifiers: chr17:g.7915879C>G (hg19) ; chr17:g.8012561C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8012561C>G , CM000679.2:g.8012561C>G	GRCh38
NC_000017.10:g.7915879C>G , CM000679.1:g.7915879C>G	GRCh37
NC_000017.9:g.7856604C>G	NCBI36
NG_009092.1:g.14892C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2068C>G MANE Select	ENSP00000254854.4:p.Leu690Val
ENST00000254854.4:c.2068C>G	ENSP00000254854.4:p.Leu690Val
NM_000180.3:c.2068C>G	NP_000171.1:p.Leu690Val
XM_011523816.1:c.2068C>G	XP_011522118.1:p.Leu690Val
NM_000180.4:c.2068C>G MANE Select	NP_000171.1:p.Leu690Val