Canonical Allele Identifier: CA8366268

Gene: GUCY2D

Linked Data

• dbSNP Id: rs371565742
• ExAC: 17:7919031 T / C
• gnomAD v2: 17-7919031-T-C
• gnomAD v3: 17-8015713-T-C
• gnomAD v4: 17-8015713-T-C
• MyVariant Identifiers: chr17:g.7919031T>C (hg19) ; chr17:g.8015713T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015713T>C , CM000679.2:g.8015713T>C	GRCh38
NC_000017.10:g.7919031T>C , CM000679.1:g.7919031T>C	GRCh37
NC_000017.9:g.7859756T>C	NCBI36
NG_009092.1:g.18044T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2945-30T>C MANE Select	ENSP00000254854.4:n.2945-30T>C
ENST00000254854.4:c.2945-30T>C	ENSP00000254854.4:n.2945-30T>C
NM_000180.3:c.2945-30T>C	NP_000171.1:n.2945-30T>C
XM_011523816.1:c.2945-30T>C	XP_011522118.1:n.2945-30T>C
NM_000180.4:c.2945-30T>C MANE Select	NP_000171.1:n.2945-30T>C