Canonical Allele Identifier: CA233220138

Gene: GUCY2C PLBD1-AS1 C12orf60

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14614625G>C , CM000674.2:g.14614625G>C	GRCh38
NC_000012.11:g.14767559G>C , CM000674.1:g.14767559G>C	GRCh37
NC_000012.10:g.14658826G>C	NCBI36
NG_052021.1:g.86961C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004963.4:c.3047+242C>G (GUCY2C) MANE Select	NP_004954.2:n.3047+242C>G
ENST00000261170.5:c.3047+242C>G (GUCY2C) MANE Select	ENSP00000261170.3:n.3047+242C>G
NM_004963.3:c.3047+242C>G (GUCY2C)	NP_004954.2:n.3047+242C>G
NR_120465.1:n.346+55G>C (PLBD1-AS1)
ENST00000261170.4:c.3047+242C>G (GUCY2C)	ENSP00000261170.3:n.3047+242C>G
XM_011520631.1:c.2801+242C>G (GUCY2C)	XP_011518933.1:n.2801+242C>G
XM_011520631.2:c.2801+242C>G (GUCY2C)	XP_011518933.1:n.2801+242C>G
XR_001748595.1:n.299+55G>C (C12orf60)
XR_001748596.1:n.299+55G>C (C12orf60)
XR_001748597.1:n.299+55G>C (C12orf60)
XR_001748598.2:n.299+55G>C (C12orf60)
XR_001748599.1:n.299+55G>C (C12orf60)