Canonical Allele Identifier: CA497753864
Gene: GUCY2D HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7919116G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015798G>C , CM000679.2:g.8015798G>C GRCh38
NC_000017.10:g.7919116G>C , CM000679.1:g.7919116G>C GRCh37
NC_000017.9:g.7859841G>C NCBI36
NG_009092.1:g.18129G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.3000G>C MANE Select ENSP00000254854.4:p.Gly1000=
ENST00000254854.4:c.3000G>C ENSP00000254854.4:p.Gly1000=
NM_000180.3:c.3000G>C NP_000171.1:p.Gly1000=
XM_011523816.1:c.3000G>C XP_011522118.1:p.Gly1000=
NM_000180.4:c.3000G>C MANE Select NP_000171.1:p.Gly1000=