Canonical Allele Identifier: CA397954896
Gene: GUCY2D HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7918787G>C (hg19) chr17:g.8015469G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015469G>C , CM000679.2:g.8015469G>C GRCh38
NC_000017.10:g.7918787G>C , CM000679.1:g.7918787G>C GRCh37
NC_000017.9:g.7859512G>C NCBI36
NG_009092.1:g.17800G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2911G>C MANE Select ENSP00000254854.4:p.Val971Leu
ENST00000254854.4:c.2911G>C ENSP00000254854.4:p.Val971Leu
NM_000180.3:c.2911G>C NP_000171.1:p.Val971Leu
XM_011523816.1:c.2911G>C XP_011522118.1:p.Val971Leu
NM_000180.4:c.2911G>C MANE Select NP_000171.1:p.Val971Leu
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