Canonical Allele Identifier: CA397954590
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8015405-C-G
MyVariant Identifiers: chr17:g.7918723C>G (hg19) chr17:g.8015405C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015405C>G , CM000679.2:g.8015405C>G GRCh38
NC_000017.10:g.7918723C>G , CM000679.1:g.7918723C>G GRCh37
NC_000017.9:g.7859448C>G NCBI36
NG_009092.1:g.17736C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2847C>G MANE Select ENSP00000254854.4:p.Ile949Met
ENST00000254854.4:c.2847C>G ENSP00000254854.4:p.Ile949Met
NM_000180.3:c.2847C>G NP_000171.1:p.Ile949Met
XM_011523816.1:c.2847C>G XP_011522118.1:p.Ile949Met
NM_000180.4:c.2847C>G MANE Select NP_000171.1:p.Ile949Met
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