Canonical Allele Identifier: CA397955326
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1237514826
gnomAD v2: 17-7919123-G-T
gnomAD v4: 17-8015805-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015805G>T , CM000679.2:g.8015805G>T GRCh38
NC_000017.10:g.7919123G>T , CM000679.1:g.7919123G>T GRCh37
NC_000017.9:g.7859848G>T NCBI36
NG_009092.1:g.18136G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3007G>T MANE Select ENSP00000254854.4:p.Val1003Phe
ENST00000254854.4:c.3007G>T ENSP00000254854.4:p.Val1003Phe
NM_000180.3:c.3007G>T NP_000171.1:p.Val1003Phe
XM_011523816.1:c.3007G>T XP_011522118.1:p.Val1003Phe
NM_000180.4:c.3007G>T MANE Select NP_000171.1:p.Val1003Phe