Canonical Allele Identifier: CA240817

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 194699
• ClinVar RCV Id: RCV000585411 ; RCV001083338 ; RCV003982924
• dbSNP Id: rs146149224
• ExAC: 17:7919299 C / T
• gnomAD v2: 17-7919299-C-T
• gnomAD v3: 17-8015981-C-T
• gnomAD v4: 17-8015981-C-T
• MyVariant Identifiers: chr17:g.7919299C>T (hg19) ; chr17:g.8015981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015981C>T , CM000679.2:g.8015981C>T	GRCh38
NC_000017.10:g.7919299C>T , CM000679.1:g.7919299C>T	GRCh37
NC_000017.9:g.7860024C>T	NCBI36
NG_009092.1:g.18312C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.3098C>T MANE Select	ENSP00000254854.4:p.Ser1033Leu
ENST00000254854.4:c.3098C>T	ENSP00000254854.4:p.Ser1033Leu
NM_000180.3:c.3098C>T	NP_000171.1:p.Ser1033Leu
XM_011523816.1:c.3098C>T	XP_011522118.1:p.Ser1033Leu
NM_000180.4:c.3098C>T MANE Select	NP_000171.1:p.Ser1033Leu