Canonical Allele Identifier: CA233221686

Gene: GUCY2C PLBD1-AS1 C12orf60

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14616534G>A , CM000674.2:g.14616534G>A	GRCh38
NC_000012.11:g.14769468G>A , CM000674.1:g.14769468G>A	GRCh37
NC_000012.10:g.14660735G>A	NCBI36
NG_052021.1:g.85052C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004963.4:c.2970+99C>T (GUCY2C) MANE Select	NP_004954.2:n.2970+99C>T
ENST00000261170.5:c.2970+99C>T (GUCY2C) MANE Select	ENSP00000261170.3:n.2970+99C>T
NM_004963.3:c.2970+99C>T (GUCY2C)	NP_004954.2:n.2970+99C>T
NR_120465.1:n.346+1964G>A (PLBD1-AS1)
ENST00000261170.4:c.2970+99C>T (GUCY2C)	ENSP00000261170.3:n.2970+99C>T
XM_011520631.1:c.2724+99C>T (GUCY2C)	XP_011518933.1:n.2724+99C>T
XM_011520631.2:c.2724+99C>T (GUCY2C)	XP_011518933.1:n.2724+99C>T
XR_001748595.1:n.299+1964G>A (C12orf60)
XR_001748596.1:n.299+1964G>A (C12orf60)
XR_001748597.1:n.299+1964G>A (C12orf60)
XR_001748598.2:n.299+1964G>A (C12orf60)
XR_001748599.1:n.299+1964G>A (C12orf60)