Canonical Allele Identifier: CA397951508
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8012236-C-A
MyVariant Identifiers: chr17:g.7915554C>A (hg19) chr17:g.8012236C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012236C>A , CM000679.2:g.8012236C>A GRCh38
NC_000017.10:g.7915554C>A , CM000679.1:g.7915554C>A GRCh37
NC_000017.9:g.7856279C>A NCBI36
NG_009092.1:g.14567C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1842C>A MANE Select ENSP00000254854.4:p.Asn614Lys
ENST00000254854.4:c.1842C>A ENSP00000254854.4:p.Asn614Lys
NM_000180.3:c.1842C>A NP_000171.1:p.Asn614Lys
XM_011523816.1:c.1842C>A XP_011522118.1:p.Asn614Lys
NM_000180.4:c.1842C>A MANE Select NP_000171.1:p.Asn614Lys
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