Canonical Allele Identifier: CA2017939605
Community Standard Title: NM_004963.4(GUCY2C):c.2086G= (p.Glu696=)
Gene: GUCY2C HGNC NCBI
C12orf60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14639933C= , CM000674.2:g.14639933C= GRCh38
NC_000012.11:g.14792867C= , CM000674.1:g.14792867C= GRCh37
NC_000012.10:g.14684134C= NCBI36
NG_052021.1:g.61653G=

Transcript Alleles

HGVS Amino-acid Change
NM_004963.4:c.2086G= (GUCY2C) MANE Select NP_004954.2:p.Glu696=
ENST00000261170.5:c.2086G= (GUCY2C) MANE Select ENSP00000261170.3:p.Glu696=
NM_004963.3:c.2086G= (GUCY2C) NP_004954.2:p.Glu696=
ENST00000261170.4:c.2086G= (GUCY2C) ENSP00000261170.3:p.Glu696=
XM_011520631.1:c.1840G= (GUCY2C) XP_011518933.1:p.Glu614=
XM_011520631.2:c.1840G= (GUCY2C) XP_011518933.1:p.Glu614=
XR_001748595.1:n.700+20017C= (C12orf60)
XR_001748596.1:n.700+20017C= (C12orf60)
XR_001748597.1:n.700+20017C= (C12orf60)
XR_001748598.2:n.700+20017C= (C12orf60)
XR_001748599.1:n.701-10998C= (C12orf60)