Canonical Allele Identifier: CA226047

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 98543
• ClinVar RCV Id: RCV000084834 ; RCV000356487 ; RCV001084922
• dbSNP Id: rs61749682
• ExAC: 17:7910817 C / T
• gnomAD v2: 17-7910817-C-T
• gnomAD v3: 17-8007499-C-T
• gnomAD v4: 17-8007499-C-T
• MyVariant Identifiers: chr17:g.7910817C>T (hg19) ; chr17:g.8007499C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8007499C>T , CM000679.2:g.8007499C>T	GRCh38
NC_000017.10:g.7910817C>T , CM000679.1:g.7910817C>T	GRCh37
NC_000017.9:g.7851542C>T	NCBI36
NG_009092.1:g.9830C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1537C>T MANE Select	ENSP00000254854.4:p.Leu513Phe
ENST00000254854.4:c.1537C>T	ENSP00000254854.4:p.Leu513Phe
NM_000180.3:c.1537C>T	NP_000171.1:p.Leu513Phe
XM_011523816.1:c.1537C>T	XP_011522118.1:p.Leu513Phe
NM_000180.4:c.1537C>T MANE Select	NP_000171.1:p.Leu513Phe