Canonical Allele Identifier: CA497753969
Gene: GUCY2D HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7919261G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015943G>T , CM000679.2:g.8015943G>T GRCh38
NC_000017.10:g.7919261G>T , CM000679.1:g.7919261G>T GRCh37
NC_000017.9:g.7859986G>T NCBI36
NG_009092.1:g.18274G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3060G>T MANE Select ENSP00000254854.4:p.Val1020=
ENST00000254854.4:c.3060G>T ENSP00000254854.4:p.Val1020=
NM_000180.3:c.3060G>T NP_000171.1:p.Val1020=
XM_011523816.1:c.3060G>T XP_011522118.1:p.Val1020=
NM_000180.4:c.3060G>T MANE Select NP_000171.1:p.Val1020=