Canonical Allele Identifier: CA497952993
Gene: GUCY2D HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7915476G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012158G>C , CM000679.2:g.8012158G>C GRCh38
NC_000017.10:g.7915476G>C , CM000679.1:g.7915476G>C GRCh37
NC_000017.9:g.7856201G>C NCBI36
NG_009092.1:g.14489G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1764G>C MANE Select ENSP00000254854.4:p.Arg588=
ENST00000254854.4:c.1764G>C ENSP00000254854.4:p.Arg588=
NM_000180.3:c.1764G>C NP_000171.1:p.Arg588=
XM_011523816.1:c.1764G>C XP_011522118.1:p.Arg588=
NM_000180.4:c.1764G>C MANE Select NP_000171.1:p.Arg588=