Canonical Allele Identifier: CA128999

Gene: GUCY2C C12orf60

Linked Data

• ClinVar Variation Id: 30176
• ClinVar RCV Id: RCV000023094
• dbSNP Id: rs587776871
• MyVariant Identifiers: chr12:g.14775021C>A (hg19) ; chr12:g.14622087C>A (hg38)
• PubMed: PMID:22436048

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14622087C>A , CM000674.2:g.14622087C>A	GRCh38
NC_000012.11:g.14775021C>A , CM000674.1:g.14775021C>A	GRCh37
NC_000012.10:g.14666288C>A	NCBI36
NG_052021.1:g.79499G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261170.5:c.2519G>T (GUCY2C) MANE Select	ENSP00000261170.3:p.Ser840Ile
ENST00000261170.4:c.2519G>T (GUCY2C)	ENSP00000261170.3:p.Ser840Ile
NM_004963.3:c.2519G>T (GUCY2C)	NP_004954.2:p.Ser840Ile
XM_011520631.1:c.2273G>T (GUCY2C)	XP_011518933.1:p.Ser758Ile
XM_011520631.2:c.2273G>T (GUCY2C)	XP_011518933.1:p.Ser758Ile
XR_001748595.1:n.700+2171C>A (C12orf60)
XR_001748596.1:n.700+2171C>A (C12orf60)
XR_001748597.1:n.700+2171C>A (C12orf60)
XR_001748598.2:n.700+2171C>A (C12orf60)
XR_001748599.1:n.700+2171C>A (C12orf60)
NM_004963.4:c.2519G>T (GUCY2C) MANE Select	NP_004954.2:p.Ser840Ile