Canonical Allele Identifier: CA2246120601

Gene: GUCY2D

Linked Data

• dbSNP Id: rs1975952911
• gnomAD v4: 17-8015623-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015623T>C , CM000679.2:g.8015623T>C	GRCh38
NC_000017.10:g.7918941T>C , CM000679.1:g.7918941T>C	GRCh37
NC_000017.9:g.7859666T>C	NCBI36
NG_009092.1:g.17954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2945-120T>C MANE Select	ENSP00000254854.4:n.2945-120T>C
ENST00000254854.4:c.2945-120T>C	ENSP00000254854.4:n.2945-120T>C
NM_000180.3:c.2945-120T>C	NP_000171.1:n.2945-120T>C
XM_011523816.1:c.2945-120T>C	XP_011522118.1:n.2945-120T>C
NM_000180.4:c.2945-120T>C MANE Select	NP_000171.1:n.2945-120T>C