Canonical Allele Identifier: CA232809

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 143061
• ClinVar RCV Id: RCV000132567 ; RCV000989734 ; RCV001079675 ; RCV001725998
• dbSNP Id: rs201414567
• ExAC: 17:7906529 C / T
• gnomAD v2: 17-7906529-C-T
• gnomAD v3: 17-8003211-C-T
• gnomAD v4: 17-8003211-C-T
• MyVariant Identifiers: chr17:g.7906529C>T (hg19) ; chr17:g.8003211C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8003211C>T , CM000679.2:g.8003211C>T	GRCh38
NC_000017.10:g.7906529C>T , CM000679.1:g.7906529C>T	GRCh37
NC_000017.9:g.7847254C>T	NCBI36
NG_009092.1:g.5542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.164C>T MANE Select	ENSP00000254854.4:p.Thr55Met
ENST00000254854.4:c.164C>T	ENSP00000254854.4:p.Thr55Met
NM_000180.3:c.164C>T	NP_000171.1:p.Thr55Met
XM_011523816.1:c.164C>T	XP_011522118.1:p.Thr55Met
NM_000180.4:c.164C>T MANE Select	NP_000171.1:p.Thr55Met