Canonical Allele Identifier: CA397955168
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8015769-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015769C>A , CM000679.2:g.8015769C>A GRCh38
NC_000017.10:g.7919087C>A , CM000679.1:g.7919087C>A GRCh37
NC_000017.9:g.7859812C>A NCBI36
NG_009092.1:g.18100C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2971C>A MANE Select ENSP00000254854.4:p.Leu991Ile
ENST00000254854.4:c.2971C>A ENSP00000254854.4:p.Leu991Ile
NM_000180.3:c.2971C>A NP_000171.1:p.Leu991Ile
XM_011523816.1:c.2971C>A XP_011522118.1:p.Leu991Ile
NM_000180.4:c.2971C>A MANE Select NP_000171.1:p.Leu991Ile