Canonical Allele Identifier: CA497753891
Gene: GUCY2D HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7919149C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015831C>G , CM000679.2:g.8015831C>G GRCh38
NC_000017.10:g.7919149C>G , CM000679.1:g.7919149C>G GRCh37
NC_000017.9:g.7859874C>G NCBI36
NG_009092.1:g.18162C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3033C>G MANE Select ENSP00000254854.4:p.Ser1011=
ENST00000254854.4:c.3033C>G ENSP00000254854.4:p.Ser1011=
NM_000180.3:c.3033C>G NP_000171.1:p.Ser1011=
XM_011523816.1:c.3033C>G XP_011522118.1:p.Ser1011=
NM_000180.4:c.3033C>G MANE Select NP_000171.1:p.Ser1011=