Canonical Allele Identifier: CA8366252
Gene: GUCY2D HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.8015475G>T
GRCh37 chr17:g.7918793G>T
Revel Score:
ENST00000254854 (MANE Select) 0.510
gnomAD v2:
17:7918793 G / T
gnomAD v3:
17:8015475 G / T
gnomAD v4:
chr17-8015475-G-T
Joint Max Group AF 0.00005299 (NFE)
Genomes Max Group AF 0.00010175 (NFE)
Exomes Max Group AF 0.000047 (NFE)
ClinVar RCV:
RCV000921018
ClinVar Variation:
744554
dbSNP:
181567056
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015475G>T , CM000679.2:g.8015475G>T GRCh38
NC_000017.10:g.7918793G>T , CM000679.1:g.7918793G>T GRCh37
NC_000017.9:g.7859518G>T NCBI36
NG_009092.1:g.17806G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2917G>T MANE Select ENSP00000254854.4:p.Val973Leu
ENST00000254854.4:c.2917G>T ENSP00000254854.4:p.Val973Leu
NM_000180.3:c.2917G>T NP_000171.1:p.Val973Leu
XM_011523816.1:c.2917G>T XP_011522118.1:p.Val973Leu
NM_000180.4:c.2917G>T MANE Select NP_000171.1:p.Val973Leu
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