Canonical Allele Identifier: CA16621700

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 425122
• ClinVar RCV Id: RCV000488275 ; RCV001360599
• dbSNP Id: rs1064797217
• gnomAD v4: 17-8013111-T-C
• MyVariant Identifiers: chr17:g.7916429T>C (hg19) ; chr17:g.8013111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8013111T>C , CM000679.2:g.8013111T>C	GRCh38
NC_000017.10:g.7916429T>C , CM000679.1:g.7916429T>C	GRCh37
NC_000017.9:g.7857154T>C	NCBI36
NG_009092.1:g.15442T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2122T>C MANE Select	ENSP00000254854.4:p.Trp708Arg
ENST00000254854.4:c.2122T>C	ENSP00000254854.4:p.Trp708Arg
NM_000180.3:c.2122T>C	NP_000171.1:p.Trp708Arg
XM_011523816.1:c.2122T>C	XP_011522118.1:p.Trp708Arg
NM_000180.4:c.2122T>C MANE Select	NP_000171.1:p.Trp708Arg