Canonical Allele Identifier: CA2740095254

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 2927062
• ClinVar RCV Id: RCV003781252

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015308A>C , CM000679.2:g.8015308A>C	GRCh38
NC_000017.10:g.7918626A>C , CM000679.1:g.7918626A>C	GRCh37
NC_000017.9:g.7859351A>C	NCBI36
NG_009092.1:g.17639A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2770-20A>C MANE Select	ENSP00000254854.4:n.2770-20A>C
ENST00000254854.4:c.2770-20A>C	ENSP00000254854.4:n.2770-20A>C
NM_000180.3:c.2770-20A>C	NP_000171.1:n.2770-20A>C
XM_011523816.1:c.2770-20A>C	XP_011522118.1:n.2770-20A>C
NM_000180.4:c.2770-20A>C MANE Select	NP_000171.1:n.2770-20A>C