Canonical Allele Identifier: CA8366231
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs763214846
gnomAD v2: 17-7918670-A-G
gnomAD v3: 17-8015352-A-G
gnomAD v4: 17-8015352-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015352A>G , CM000679.2:g.8015352A>G GRCh38
NC_000017.10:g.7918670A>G , CM000679.1:g.7918670A>G GRCh37
NC_000017.9:g.7859395A>G NCBI36
NG_009092.1:g.17683A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2794A>G MANE Select ENSP00000254854.4:p.Met932Val
ENST00000254854.4:c.2794A>G ENSP00000254854.4:p.Met932Val
NM_000180.3:c.2794A>G NP_000171.1:p.Met932Val
XM_011523816.1:c.2794A>G XP_011522118.1:p.Met932Val
NM_000180.4:c.2794A>G MANE Select NP_000171.1:p.Met932Val