Canonical Allele Identifier: CA397942976
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8003261-C-A
MyVariant Identifiers: chr17:g.7906579C>A (hg19) chr17:g.8003261C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003261C>A , CM000679.2:g.8003261C>A GRCh38
NC_000017.10:g.7906579C>A , CM000679.1:g.7906579C>A GRCh37
NC_000017.9:g.7847304C>A NCBI36
NG_009092.1:g.5592C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.214C>A MANE Select ENSP00000254854.4:p.Arg72Ser
ENST00000254854.4:c.214C>A ENSP00000254854.4:p.Arg72Ser
NM_000180.3:c.214C>A NP_000171.1:p.Arg72Ser
XM_011523816.1:c.214C>A XP_011522118.1:p.Arg72Ser
NM_000180.4:c.214C>A MANE Select NP_000171.1:p.Arg72Ser
Search 100 bp 5'
Search 100 bp 3'