Canonical Allele Identifier: CA397952617
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1975876493
gnomAD v4: 17-8012591-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012591C>G , CM000679.2:g.8012591C>G GRCh38
NC_000017.10:g.7915909C>G , CM000679.1:g.7915909C>G GRCh37
NC_000017.9:g.7856634C>G NCBI36
NG_009092.1:g.14922C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2098C>G MANE Select ENSP00000254854.4:p.Pro700Ala
ENST00000254854.4:c.2098C>G ENSP00000254854.4:p.Pro700Ala
NM_000180.3:c.2098C>G NP_000171.1:p.Pro700Ala
XM_011523816.1:c.2098C>G XP_011522118.1:p.Pro700Ala
NM_000180.4:c.2098C>G MANE Select NP_000171.1:p.Pro700Ala