Canonical Allele Identifier: CA397955377
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1738565324
gnomAD v3: 17-8015818-C-A
gnomAD v4: 17-8015818-C-A
MyVariant Identifiers: chr17:g.7919136C>A (hg19) chr17:g.8015818C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015818C>A , CM000679.2:g.8015818C>A GRCh38
NC_000017.10:g.7919136C>A , CM000679.1:g.7919136C>A GRCh37
NC_000017.9:g.7859861C>A NCBI36
NG_009092.1:g.18149C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3020C>A MANE Select ENSP00000254854.4:p.Ser1007Ter
ENST00000254854.4:c.3020C>A ENSP00000254854.4:p.Ser1007Ter
NM_000180.3:c.3020C>A NP_000171.1:p.Ser1007Ter
XM_011523816.1:c.3020C>A XP_011522118.1:p.Ser1007Ter
NM_000180.4:c.3020C>A MANE Select NP_000171.1:p.Ser1007Ter
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