Canonical Allele Identifier: CA2547662588
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2946612
ClinVar RCV Id: RCV003808850
gnomAD v4: 17-8012364-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012364G>T , CM000679.2:g.8012364G>T GRCh38
NC_000017.10:g.7915682G>T , CM000679.1:g.7915682G>T GRCh37
NC_000017.9:g.7856407G>T NCBI36
NG_009092.1:g.14695G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1956+14G>T MANE Select ENSP00000254854.4:n.1956+14G>T
ENST00000254854.4:c.1956+14G>T ENSP00000254854.4:n.1956+14G>T
NM_000180.3:c.1956+14G>T NP_000171.1:n.1956+14G>T
XM_011523816.1:c.1956+14G>T XP_011522118.1:n.1956+14G>T
NM_000180.4:c.1956+14G>T MANE Select NP_000171.1:n.1956+14G>T
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