Canonical Allele Identifier: CA8366282
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs376759049
ExAC: 17:7919152 C / G
gnomAD v2: 17-7919152-C-G
gnomAD v4: 17-8015834-C-G
MyVariant Identifiers: chr17:g.7919152C>G (hg19) chr17:g.8015834C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015834C>G , CM000679.2:g.8015834C>G GRCh38
NC_000017.10:g.7919152C>G , CM000679.1:g.7919152C>G GRCh37
NC_000017.9:g.7859877C>G NCBI36
NG_009092.1:g.18165C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3036C>G MANE Select ENSP00000254854.4:p.Thr1012=
ENST00000254854.4:c.3036C>G ENSP00000254854.4:p.Thr1012=
NM_000180.3:c.3036C>G NP_000171.1:p.Thr1012=
XM_011523816.1:c.3036C>G XP_011522118.1:p.Thr1012=
NM_000180.4:c.3036C>G MANE Select NP_000171.1:p.Thr1012=
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