Canonical Allele Identifier: CA16603205
Community Standard Title: NM_004963.4(GUCY2C):c.628G>A (p.Glu210Lys)
Gene: GUCY2C HGNC NCBI
C12orf60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14681461C>T , CM000674.2:g.14681461C>T GRCh38
NC_000012.11:g.14834395C>T , CM000674.1:g.14834395C>T GRCh37
NC_000012.10:g.14725662C>T NCBI36
NG_052021.1:g.20125G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004963.4:c.628G>A (GUCY2C) MANE Select NP_004954.2:p.Glu210Lys
ENST00000261170.5:c.628G>A (GUCY2C) MANE Select ENSP00000261170.3:p.Glu210Lys
NM_004963.3:c.628G>A (GUCY2C) NP_004954.2:p.Glu210Lys
ENST00000261170.4:c.628G>A (GUCY2C) ENSP00000261170.3:p.Glu210Lys
ENST00000535803.1:n.755G>A (GUCY2C)
XM_011520631.1:c.382G>A (GUCY2C) XP_011518933.1:p.Glu128Lys
XM_011520631.2:c.382G>A (GUCY2C) XP_011518933.1:p.Glu128Lys
XM_024448858.1:c.-762+9147C>T (C12orf60) XP_024304626.1:n.-762+9147C>T
XM_024448859.1:c.-762+9147C>T (C12orf60) XP_024304627.1:n.-762+9147C>T
XR_001748595.1:n.904+9147C>T (C12orf60)
XR_001748597.1:n.701-36574C>T (C12orf60)