Canonical Allele Identifier: CA13733962
Community Standard Title: NM_004963.4(GUCY2C):c.2068+229C>T
Gene: GUCY2C HGNC NCBI
C12orf60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14640853G>A , CM000674.2:g.14640853G>A GRCh38
NC_000012.11:g.14793787G>A , CM000674.1:g.14793787G>A GRCh37
NC_000012.10:g.14685054G>A NCBI36
NG_052021.1:g.60733C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004963.4:c.2068+229C>T (GUCY2C) MANE Select NP_004954.2:n.2068+229C>T
ENST00000261170.5:c.2068+229C>T (GUCY2C) MANE Select ENSP00000261170.3:n.2068+229C>T
NM_004963.3:c.2068+229C>T (GUCY2C) NP_004954.2:n.2068+229C>T
ENST00000261170.4:c.2068+229C>T (GUCY2C) ENSP00000261170.3:n.2068+229C>T
XM_011520631.1:c.1822+229C>T (GUCY2C) XP_011518933.1:n.1822+229C>T
XM_011520631.2:c.1822+229C>T (GUCY2C) XP_011518933.1:n.1822+229C>T
XR_001748595.1:n.700+20937G>A (C12orf60)
XR_001748596.1:n.700+20937G>A (C12orf60)
XR_001748597.1:n.700+20937G>A (C12orf60)
XR_001748598.2:n.701-20011G>A (C12orf60)
XR_001748599.1:n.701-10078G>A (C12orf60)