Canonical Allele Identifier: CA2017927632
Community Standard Title: NM_004963.4(GUCY2C):c.2782T= (p.Cys928=)
Gene: GUCY2C HGNC NCBI
PLBD1-AS1 HGNC NCBI
C12orf60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14619304A= , CM000674.2:g.14619304A= GRCh38
NC_000012.11:g.14772238A= , CM000674.1:g.14772238A= GRCh37
NC_000012.10:g.14663505A= NCBI36
NG_052021.1:g.82282T=

Transcript Alleles

HGVS Amino-acid Change
NM_004963.4:c.2782T= (GUCY2C) MANE Select NP_004954.2:p.Cys928=
ENST00000261170.5:c.2782T= (GUCY2C) MANE Select ENSP00000261170.3:p.Cys928=
NM_004963.3:c.2782T= (GUCY2C) NP_004954.2:p.Cys928=
NR_120465.1:n.499A= (PLBD1-AS1)
ENST00000261170.4:c.2782T= (GUCY2C) ENSP00000261170.3:p.Cys928=
XM_011520631.1:c.2536T= (GUCY2C) XP_011518933.1:p.Cys846=
XM_011520631.2:c.2536T= (GUCY2C) XP_011518933.1:p.Cys846=
XR_001748595.1:n.452A= (C12orf60)
XR_001748596.1:n.452A= (C12orf60)
XR_001748597.1:n.452A= (C12orf60)
XR_001748598.2:n.452A= (C12orf60)
XR_001748599.1:n.452A= (C12orf60)