Canonical Allele Identifier: CA6463465
Gene: GUCY2C HGNC NCBI
C12orf60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14661069C>T , CM000674.2:g.14661069C>T GRCh38
NC_000012.11:g.14814003C>T , CM000674.1:g.14814003C>T GRCh37
NC_000012.10:g.14705270C>T NCBI36
NG_052021.1:g.40517G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004963.4:c.1283-7G>A (GUCY2C) MANE Select NP_004954.2:n.1283-7G>A
ENST00000261170.5:c.1283-7G>A (GUCY2C) MANE Select ENSP00000261170.3:n.1283-7G>A
NM_004963.3:c.1283-7G>A (GUCY2C) NP_004954.2:n.1283-7G>A
ENST00000261170.4:c.1283-7G>A (GUCY2C) ENSP00000261170.3:n.1283-7G>A
XM_011520631.1:c.1037-7G>A (GUCY2C) XP_011518933.1:n.1037-7G>A
XM_011520631.2:c.1037-7G>A (GUCY2C) XP_011518933.1:n.1037-7G>A
XR_001748595.1:n.701-4790C>T (C12orf60)
XR_001748596.1:n.701-4790C>T (C12orf60)
XR_001748597.1:n.700+41153C>T (C12orf60)