Canonical Allele Identifier: CA383993406

Gene: GUCY2C PLBD1-AS1 C12orf60

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14619304A>C , CM000674.2:g.14619304A>C	GRCh38
NC_000012.11:g.14772238A>C , CM000674.1:g.14772238A>C	GRCh37
NC_000012.10:g.14663505A>C	NCBI36
NG_052021.1:g.82282T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004963.4:c.2782T>G (GUCY2C) MANE Select	NP_004954.2:p.Cys928Gly
ENST00000261170.5:c.2782T>G (GUCY2C) MANE Select	ENSP00000261170.3:p.Cys928Gly
NM_004963.3:c.2782T>G (GUCY2C)	NP_004954.2:p.Cys928Gly
NR_120465.1:n.499A>C (PLBD1-AS1)
ENST00000261170.4:c.2782T>G (GUCY2C)	ENSP00000261170.3:p.Cys928Gly
XM_011520631.1:c.2536T>G (GUCY2C)	XP_011518933.1:p.Cys846Gly
XM_011520631.2:c.2536T>G (GUCY2C)	XP_011518933.1:p.Cys846Gly
XR_001748595.1:n.452A>C (C12orf60)
XR_001748596.1:n.452A>C (C12orf60)
XR_001748597.1:n.452A>C (C12orf60)
XR_001748598.2:n.452A>C (C12orf60)
XR_001748599.1:n.452A>C (C12orf60)