Canonical Allele Identifier: CA497953402
Gene: GUCY2D HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7915881G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012563G>C , CM000679.2:g.8012563G>C GRCh38
NC_000017.10:g.7915881G>C , CM000679.1:g.7915881G>C GRCh37
NC_000017.9:g.7856606G>C NCBI36
NG_009092.1:g.14894G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2070G>C MANE Select ENSP00000254854.4:p.Leu690=
ENST00000254854.4:c.2070G>C ENSP00000254854.4:p.Leu690=
NM_000180.3:c.2070G>C NP_000171.1:p.Leu690=
XM_011523816.1:c.2070G>C XP_011522118.1:p.Leu690=
NM_000180.4:c.2070G>C MANE Select NP_000171.1:p.Leu690=