Canonical Allele Identifier: CA397955395
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8015823-A-G
MyVariant Identifiers: chr17:g.7919141A>G (hg19) chr17:g.8015823A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015823A>G , CM000679.2:g.8015823A>G GRCh38
NC_000017.10:g.7919141A>G , CM000679.1:g.7919141A>G GRCh37
NC_000017.9:g.7859866A>G NCBI36
NG_009092.1:g.18154A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3025A>G MANE Select ENSP00000254854.4:p.Met1009Val
ENST00000254854.4:c.3025A>G ENSP00000254854.4:p.Met1009Val
NM_000180.3:c.3025A>G NP_000171.1:p.Met1009Val
XM_011523816.1:c.3025A>G XP_011522118.1:p.Met1009Val
NM_000180.4:c.3025A>G MANE Select NP_000171.1:p.Met1009Val
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Search 100 bp 3'