Canonical Allele Identifier: CA397942969
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8003256-G-T
MyVariant Identifiers: chr17:g.7906574G>T (hg19) chr17:g.8003256G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003256G>T , CM000679.2:g.8003256G>T GRCh38
NC_000017.10:g.7906574G>T , CM000679.1:g.7906574G>T GRCh37
NC_000017.9:g.7847299G>T NCBI36
NG_009092.1:g.5587G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.209G>T MANE Select ENSP00000254854.4:p.Arg70Leu
ENST00000254854.4:c.209G>T ENSP00000254854.4:p.Arg70Leu
NM_000180.3:c.209G>T NP_000171.1:p.Arg70Leu
XM_011523816.1:c.209G>T XP_011522118.1:p.Arg70Leu
NM_000180.4:c.209G>T MANE Select NP_000171.1:p.Arg70Leu
Search 100 bp 5'
Search 100 bp 3'