Canonical Allele Identifier: CA6462940

Gene: GUCY2C PLBD1-AS1 C12orf60

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14616712A>G , CM000674.2:g.14616712A>G	GRCh38
NC_000012.11:g.14769646A>G , CM000674.1:g.14769646A>G	GRCh37
NC_000012.10:g.14660913A>G	NCBI36
NG_052021.1:g.84874T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004963.4:c.2891T>C (GUCY2C) MANE Select	NP_004954.2:p.Val964Ala
ENST00000261170.5:c.2891T>C (GUCY2C) MANE Select	ENSP00000261170.3:p.Val964Ala
NM_004963.3:c.2891T>C (GUCY2C)	NP_004954.2:p.Val964Ala
NR_120465.1:n.346+2142A>G (PLBD1-AS1)
ENST00000261170.4:c.2891T>C (GUCY2C)	ENSP00000261170.3:p.Val964Ala
XM_011520631.1:c.2645T>C (GUCY2C)	XP_011518933.1:p.Val882Ala
XM_011520631.2:c.2645T>C (GUCY2C)	XP_011518933.1:p.Val882Ala
XR_001748595.1:n.299+2142A>G (C12orf60)
XR_001748596.1:n.299+2142A>G (C12orf60)
XR_001748597.1:n.299+2142A>G (C12orf60)
XR_001748598.2:n.299+2142A>G (C12orf60)
XR_001748599.1:n.299+2142A>G (C12orf60)