Canonical Allele Identifier: CA16044230
Gene: GUCY2C HGNC NCBI
C12orf60 HGNC NCBI

Linked Data

ClinVar Variation Id: 375380
ClinVar RCV Id: RCV000416478
dbSNP Id: rs1057519441
MyVariant Identifiers: chr12:g.14836177A>G (hg19) chr12:g.14683243A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14683243A>G , CM000674.2:g.14683243A>G GRCh38
NC_000012.11:g.14836177A>G , CM000674.1:g.14836177A>G GRCh37
NC_000012.10:g.14727444A>G NCBI36
NG_052021.1:g.18343T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261170.5:c.410T>C (GUCY2C) MANE Select ENSP00000261170.3:p.Leu137Ser
ENST00000261170.4:c.410T>C (GUCY2C) ENSP00000261170.3:p.Leu137Ser
ENST00000535803.1:n.537T>C (GUCY2C)
NM_004963.3:c.410T>C (GUCY2C) NP_004954.2:p.Leu137Ser
XM_011520631.1:c.164T>C (GUCY2C) XP_011518933.1:p.Leu55Ser
XM_011520631.2:c.164T>C (GUCY2C) XP_011518933.1:p.Leu55Ser
XM_024448858.1:c.-762+10929A>G (C12orf60) XP_024304626.1:n.-762+10929A>G
XM_024448859.1:c.-762+10929A>G (C12orf60) XP_024304627.1:n.-762+10929A>G
XR_001748595.1:n.904+10929A>G (C12orf60)
XR_001748597.1:n.701-34792A>G (C12orf60)
NM_004963.4:c.410T>C (GUCY2C) MANE Select NP_004954.2:p.Leu137Ser
Search 100 bp 5'
Search 100 bp 3'