Canonical Allele Identifier: CA226130

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 98594
• ClinVar RCV Id: RCV000084889 ; RCV001250858 ; RCV002514513
• dbSNP Id: rs61750194
• gnomAD v2: 17-7919319-C-T
• gnomAD v4: 17-8016001-C-T
• MyVariant Identifiers: chr17:g.7919319C>T (hg19) ; chr17:g.8016001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8016001C>T , CM000679.2:g.8016001C>T	GRCh38
NC_000017.10:g.7919319C>T , CM000679.1:g.7919319C>T	GRCh37
NC_000017.9:g.7860044C>T	NCBI36
NG_009092.1:g.18332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.3118C>T MANE Select	ENSP00000254854.4:p.Arg1040Ter
ENST00000254854.4:c.3118C>T	ENSP00000254854.4:p.Arg1040Ter
NM_000180.3:c.3118C>T	NP_000171.1:p.Arg1040Ter
XM_011523816.1:c.3118C>T	XP_011522118.1:p.Arg1040Ter
NM_000180.4:c.3118C>T MANE Select	NP_000171.1:p.Arg1040Ter