Canonical Allele Identifier: CA6463094

Gene: GUCY2C C12orf60

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14625815G>T , CM000674.2:g.14625815G>T	GRCh38
NC_000012.11:g.14778749G>T , CM000674.1:g.14778749G>T	GRCh37
NC_000012.10:g.14670016G>T	NCBI36
NG_052021.1:g.75771C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004963.4:c.2350C>A (GUCY2C) MANE Select	NP_004954.2:p.Gln784Lys
ENST00000261170.5:c.2350C>A (GUCY2C) MANE Select	ENSP00000261170.3:p.Gln784Lys
NM_004963.3:c.2350C>A (GUCY2C)	NP_004954.2:p.Gln784Lys
ENST00000261170.4:c.2350C>A (GUCY2C)	ENSP00000261170.3:p.Gln784Lys
XM_011520631.1:c.2104C>A (GUCY2C)	XP_011518933.1:p.Gln702Lys
XM_011520631.2:c.2104C>A (GUCY2C)	XP_011518933.1:p.Gln702Lys
XR_001748595.1:n.700+5899G>T (C12orf60)
XR_001748596.1:n.700+5899G>T (C12orf60)
XR_001748597.1:n.700+5899G>T (C12orf60)
XR_001748598.2:n.700+5899G>T (C12orf60)
XR_001748599.1:n.700+5899G>T (C12orf60)