Canonical Allele Identifier: CA624867988
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs779480027
gnomAD v2: 17-7918830-G-T
gnomAD v3: 17-8015512-G-T
gnomAD v4: 17-8015512-G-T
MyVariant Identifiers: chr17:g.7918830G>T (hg19) chr17:g.8015512G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015512G>T , CM000679.2:g.8015512G>T GRCh38
NC_000017.10:g.7918830G>T , CM000679.1:g.7918830G>T GRCh37
NC_000017.9:g.7859555G>T NCBI36
NG_009092.1:g.17843G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2944+10G>T MANE Select ENSP00000254854.4:n.2944+10G>T
ENST00000254854.4:c.2944+10G>T ENSP00000254854.4:n.2944+10G>T
NM_000180.3:c.2944+10G>T NP_000171.1:n.2944+10G>T
XM_011523816.1:c.2944+10G>T XP_011522118.1:n.2944+10G>T
NM_000180.4:c.2944+10G>T MANE Select NP_000171.1:n.2944+10G>T
Search 100 bp 5'
Search 100 bp 3'