Canonical Allele Identifier: CA8365581

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 521653
• ClinVar RCV Id: RCV000624057 ; RCV001075746 ; RCV003767829
• dbSNP Id: rs143745703
• ExAC: 17:7907297 C / G
• gnomAD v3: 17-8003979-C-G
• gnomAD v4: 17-8003979-C-G
• MyVariant Identifiers: chr17:g.7907297C>G (hg19) ; chr17:g.8003979C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8003979C>G , CM000679.2:g.8003979C>G	GRCh38
NC_000017.10:g.7907297C>G , CM000679.1:g.7907297C>G	GRCh37
NC_000017.9:g.7848022C>G	NCBI36
NG_009092.1:g.6310C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.849C>G MANE Select	ENSP00000254854.4:p.Tyr283Ter
ENST00000254854.4:c.849C>G	ENSP00000254854.4:p.Tyr283Ter
NM_000180.3:c.849C>G	NP_000171.1:p.Tyr283Ter
XM_011523816.1:c.849C>G	XP_011522118.1:p.Tyr283Ter
NM_000180.4:c.849C>G MANE Select	NP_000171.1:p.Tyr283Ter