Canonical Allele Identifier: CA226043

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 98540
• ClinVar RCV Id: RCV000084831 ; RCV000989737 ; RCV001037164 ; RCV001250830
• dbSNP Id: rs61749679
• ExAC: 17:7909997 C / A
• gnomAD v2: 17-7909997-C-A
• gnomAD v3: 17-8006679-C-A
• gnomAD v4: 17-8006679-C-A
• MyVariant Identifiers: chr17:g.7909997C>A (hg19) ; chr17:g.8006679C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8006679C>A , CM000679.2:g.8006679C>A	GRCh38
NC_000017.10:g.7909997C>A , CM000679.1:g.7909997C>A	GRCh37
NC_000017.9:g.7850722C>A	NCBI36
NG_009092.1:g.9010C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1343C>A MANE Select	ENSP00000254854.4:p.Ser448Ter
ENST00000254854.4:c.1343C>A	ENSP00000254854.4:p.Ser448Ter
NM_000180.3:c.1343C>A	NP_000171.1:p.Ser448Ter
XM_011523816.1:c.1343C>A	XP_011522118.1:p.Ser448Ter
NM_000180.4:c.1343C>A MANE Select	NP_000171.1:p.Ser448Ter