Canonical Allele Identifier: CA497953455
Gene: GUCY2D HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7915902A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012584A>G , CM000679.2:g.8012584A>G GRCh38
NC_000017.10:g.7915902A>G , CM000679.1:g.7915902A>G GRCh37
NC_000017.9:g.7856627A>G NCBI36
NG_009092.1:g.14915A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2091A>G MANE Select ENSP00000254854.4:p.Leu697=
ENST00000254854.4:c.2091A>G ENSP00000254854.4:p.Leu697=
NM_000180.3:c.2091A>G NP_000171.1:p.Leu697=
XM_011523816.1:c.2091A>G XP_011522118.1:p.Leu697=
NM_000180.4:c.2091A>G MANE Select NP_000171.1:p.Leu697=