Canonical Allele Identifier: CA2017940172
Community Standard Title: NM_004963.4(GUCY2C):c.2008G= (p.Ala670=)
Gene: GUCY2C HGNC NCBI
C12orf60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14641142C= , CM000674.2:g.14641142C= GRCh38
NC_000012.11:g.14794076C= , CM000674.1:g.14794076C= GRCh37
NC_000012.10:g.14685343C= NCBI36
NG_052021.1:g.60444G=

Transcript Alleles

HGVS Amino-acid Change
NM_004963.4:c.2008G= (GUCY2C) MANE Select NP_004954.2:p.Ala670=
ENST00000261170.5:c.2008G= (GUCY2C) MANE Select ENSP00000261170.3:p.Ala670=
NM_004963.3:c.2008G= (GUCY2C) NP_004954.2:p.Ala670=
ENST00000261170.4:c.2008G= (GUCY2C) ENSP00000261170.3:p.Ala670=
XM_011520631.1:c.1762G= (GUCY2C) XP_011518933.1:p.Ala588=
XM_011520631.2:c.1762G= (GUCY2C) XP_011518933.1:p.Ala588=
XR_001748595.1:n.700+21226C= (C12orf60)
XR_001748596.1:n.700+21226C= (C12orf60)
XR_001748597.1:n.700+21226C= (C12orf60)
XR_001748598.2:n.701-19722C= (C12orf60)
XR_001748599.1:n.701-9789C= (C12orf60)