Canonical Allele Identifier: CA2017950195
Community Standard Title: NM_004963.4(GUCY2C):c.1160A= (p.Asp387=)
Gene: GUCY2C HGNC NCBI
C12orf60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14672883T= , CM000674.2:g.14672883T= GRCh38
NC_000012.11:g.14825817T= , CM000674.1:g.14825817T= GRCh37
NC_000012.10:g.14717084T= NCBI36
NG_052021.1:g.28703A=

Transcript Alleles

HGVS Amino-acid Change
NM_004963.4:c.1160A= (GUCY2C) MANE Select NP_004954.2:p.Asp387=
ENST00000261170.5:c.1160A= (GUCY2C) MANE Select ENSP00000261170.3:p.Asp387=
NM_004963.3:c.1160A= (GUCY2C) NP_004954.2:p.Asp387=
ENST00000261170.4:c.1160A= (GUCY2C) ENSP00000261170.3:p.Asp387=
XM_011520631.1:c.914A= (GUCY2C) XP_011518933.1:p.Asp305=
XM_011520631.2:c.914A= (GUCY2C) XP_011518933.1:p.Asp305=
XM_024448858.1:c.-762+569T= (C12orf60) XP_024304626.1:n.-762+569T=
XM_024448859.1:c.-762+569T= (C12orf60) XP_024304627.1:n.-762+569T=
XR_001748595.1:n.904+569T= (C12orf60)
XR_001748597.1:n.701-45152T= (C12orf60)