Canonical Allele Identifier: CA397955144
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1248867031
gnomAD v2: 17-7919081-G-A
gnomAD v4: 17-8015763-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015763G>A , CM000679.2:g.8015763G>A GRCh38
NC_000017.10:g.7919081G>A , CM000679.1:g.7919081G>A GRCh37
NC_000017.9:g.7859806G>A NCBI36
NG_009092.1:g.18094G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2965G>A MANE Select ENSP00000254854.4:p.Val989Met
ENST00000254854.4:c.2965G>A ENSP00000254854.4:p.Val989Met
NM_000180.3:c.2965G>A NP_000171.1:p.Val989Met
XM_011523816.1:c.2965G>A XP_011522118.1:p.Val989Met
NM_000180.4:c.2965G>A MANE Select NP_000171.1:p.Val989Met