Canonical Allele Identifier: CA397952423
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8012543-G-T
MyVariant Identifiers: chr17:g.7915861G>T (hg19) chr17:g.8012543G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012543G>T , CM000679.2:g.8012543G>T GRCh38
NC_000017.10:g.7915861G>T , CM000679.1:g.7915861G>T GRCh37
NC_000017.9:g.7856586G>T NCBI36
NG_009092.1:g.14874G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2050G>T MANE Select ENSP00000254854.4:p.Asp684Tyr
ENST00000254854.4:c.2050G>T ENSP00000254854.4:p.Asp684Tyr
NM_000180.3:c.2050G>T NP_000171.1:p.Asp684Tyr
XM_011523816.1:c.2050G>T XP_011522118.1:p.Asp684Tyr
NM_000180.4:c.2050G>T MANE Select NP_000171.1:p.Asp684Tyr
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