Canonical Allele Identifier: CA8366255
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs764522054
ExAC: 17:7918806 T / C
gnomAD v2: 17-7918806-T-C
gnomAD v3: 17-8015488-T-C
gnomAD v4: 17-8015488-T-C
MyVariant Identifiers: chr17:g.7918806T>C (hg19) chr17:g.8015488T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015488T>C , CM000679.2:g.8015488T>C GRCh38
NC_000017.10:g.7918806T>C , CM000679.1:g.7918806T>C GRCh37
NC_000017.9:g.7859531T>C NCBI36
NG_009092.1:g.17819T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2930T>C MANE Select ENSP00000254854.4:p.Ile977Thr
ENST00000254854.4:c.2930T>C ENSP00000254854.4:p.Ile977Thr
NM_000180.3:c.2930T>C NP_000171.1:p.Ile977Thr
XM_011523816.1:c.2930T>C XP_011522118.1:p.Ile977Thr
NM_000180.4:c.2930T>C MANE Select NP_000171.1:p.Ile977Thr
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