Canonical Allele Identifier: CA226103

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 98578
• ClinVar RCV Id: RCV000084873 ; RCV001075835 ; RCV002514512
• dbSNP Id: rs61750182
• gnomAD v2: 17-7918737-T-C
• gnomAD v3: 17-8015419-T-C
• gnomAD v4: 17-8015419-T-C
• MyVariant Identifiers: chr17:g.7918737T>C (hg19) ; chr17:g.8015419T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015419T>C , CM000679.2:g.8015419T>C	GRCh38
NC_000017.10:g.7918737T>C , CM000679.1:g.7918737T>C	GRCh37
NC_000017.9:g.7859462T>C	NCBI36
NG_009092.1:g.17750T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2861T>C MANE Select	ENSP00000254854.4:p.Leu954Pro
ENST00000254854.4:c.2861T>C	ENSP00000254854.4:p.Leu954Pro
NM_000180.3:c.2861T>C	NP_000171.1:p.Leu954Pro
XM_011523816.1:c.2861T>C	XP_011522118.1:p.Leu954Pro
NM_000180.4:c.2861T>C MANE Select	NP_000171.1:p.Leu954Pro