Canonical Allele Identifier: CA397952510
Gene: GUCY2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012564C>G , CM000679.2:g.8012564C>G GRCh38
NC_000017.10:g.7915882C>G , CM000679.1:g.7915882C>G GRCh37
NC_000017.9:g.7856607C>G NCBI36
NG_009092.1:g.14895C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2071C>G MANE Select ENSP00000254854.4:p.Leu691Val
ENST00000254854.4:c.2071C>G ENSP00000254854.4:p.Leu691Val
NM_000180.3:c.2071C>G NP_000171.1:p.Leu691Val
XM_011523816.1:c.2071C>G XP_011522118.1:p.Leu691Val
NM_000180.4:c.2071C>G MANE Select NP_000171.1:p.Leu691Val