Canonical Allele Identifier: CA497953225
Gene: GUCY2D HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7915812G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012494G>C , CM000679.2:g.8012494G>C GRCh38
NC_000017.10:g.7915812G>C , CM000679.1:g.7915812G>C GRCh37
NC_000017.9:g.7856537G>C NCBI36
NG_009092.1:g.14825G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2001G>C MANE Select ENSP00000254854.4:p.Leu667=
ENST00000254854.4:c.2001G>C ENSP00000254854.4:p.Leu667=
NM_000180.3:c.2001G>C NP_000171.1:p.Leu667=
XM_011523816.1:c.2001G>C XP_011522118.1:p.Leu667=
NM_000180.4:c.2001G>C MANE Select NP_000171.1:p.Leu667=