Canonical Allele Identifier: CA6463216

Gene: GUCY2C C12orf60

Linked Data

• ClinVar Variation Id: 402916
• ClinVar RCV Id: RCV000456044 ; RCV001522854 ; RCV001702489 ; RCV001703171
• dbSNP Id: rs10772800
• ExAC: 12:14794062 G / A
• gnomAD v2: 12-14794062-G-A
• gnomAD v3: 12-14641128-G-A
• gnomAD v4: 12-14641128-G-A
• MyVariant Identifiers: chr12:g.14794062G>A (hg19) ; chr12:g.14641128G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14641128G>A , CM000674.2:g.14641128G>A	GRCh38
NC_000012.11:g.14794062G>A , CM000674.1:g.14794062G>A	GRCh37
NC_000012.10:g.14685329G>A	NCBI36
NG_052021.1:g.60458C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261170.5:c.2022C>T (GUCY2C) MANE Select	ENSP00000261170.3:p.Ile674=
ENST00000261170.4:c.2022C>T (GUCY2C)	ENSP00000261170.3:p.Ile674=
NM_004963.3:c.2022C>T (GUCY2C)	NP_004954.2:p.Ile674=
XM_011520631.1:c.1776C>T (GUCY2C)	XP_011518933.1:p.Ile592=
XM_011520631.2:c.1776C>T (GUCY2C)	XP_011518933.1:p.Ile592=
XR_001748595.1:n.700+21212G>A (C12orf60)
XR_001748596.1:n.700+21212G>A (C12orf60)
XR_001748597.1:n.700+21212G>A (C12orf60)
XR_001748598.2:n.701-19736G>A (C12orf60)
XR_001748599.1:n.701-9803G>A (C12orf60)
NM_004963.4:c.2022C>T (GUCY2C) MANE Select	NP_004954.2:p.Ile674=