Canonical Allele Identifier: CA478725009
Community Standard Title: NM_004963.4(GUCY2C):c.1122T>C (p.Asp374=)
Gene: GUCY2C HGNC NCBI
C12orf60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14672921A>G , CM000674.2:g.14672921A>G GRCh38
NC_000012.11:g.14825855A>G , CM000674.1:g.14825855A>G GRCh37
NC_000012.10:g.14717122A>G NCBI36
NG_052021.1:g.28665T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004963.4:c.1122T>C (GUCY2C) MANE Select NP_004954.2:p.Asp374=
ENST00000261170.5:c.1122T>C (GUCY2C) MANE Select ENSP00000261170.3:p.Asp374=
NM_004963.3:c.1122T>C (GUCY2C) NP_004954.2:p.Asp374=
ENST00000261170.4:c.1122T>C (GUCY2C) ENSP00000261170.3:p.Asp374=
XM_011520631.1:c.876T>C (GUCY2C) XP_011518933.1:p.Asp292=
XM_011520631.2:c.876T>C (GUCY2C) XP_011518933.1:p.Asp292=
XM_024448858.1:c.-762+607A>G (C12orf60) XP_024304626.1:n.-762+607A>G
XM_024448859.1:c.-762+607A>G (C12orf60) XP_024304627.1:n.-762+607A>G
XR_001748595.1:n.904+607A>G (C12orf60)
XR_001748597.1:n.701-45114A>G (C12orf60)