Canonical Allele Identifier: CA226036

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 98536
• ClinVar RCV Id: RCV000084827 ; RCV001250829 ; RCV001377421 ; RCV003398694
• dbSNP Id: rs61749676
• ExAC: 17:7909706 A / G
• gnomAD v2: 17-7909706-A-G
• gnomAD v3: 17-8006388-A-G
• gnomAD v4: 17-8006388-A-G
• MyVariant Identifiers: chr17:g.7909706A>G (hg19) ; chr17:g.8006388A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8006388A>G , CM000679.2:g.8006388A>G	GRCh38
NC_000017.10:g.7909706A>G , CM000679.1:g.7909706A>G	GRCh37
NC_000017.9:g.7850431A>G	NCBI36
NG_009092.1:g.8719A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1052A>G MANE Select	ENSP00000254854.4:p.Tyr351Cys
ENST00000254854.4:c.1052A>G	ENSP00000254854.4:p.Tyr351Cys
NM_000180.3:c.1052A>G	NP_000171.1:p.Tyr351Cys
XM_011523816.1:c.1052A>G	XP_011522118.1:p.Tyr351Cys
NM_000180.4:c.1052A>G MANE Select	NP_000171.1:p.Tyr351Cys