Canonical Allele Identifier: CA397948110
Gene: GUCY2D HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.8006591A>C
GRCh37 chr17:g.7909909A>C
Revel Score:
ENST00000254854 (MANE Select) 0.054
gnomAD v2:
17:7909909 A / C
gnomAD v3:
17:8006591 A / C
gnomAD v4:
chr17-8006591-A-C
Joint Max Group AF 0.00001746 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV001912808
ClinVar Variation:
1398194
dbSNP:
1388468307
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8006591A>C , CM000679.2:g.8006591A>C GRCh38
NC_000017.10:g.7909909A>C , CM000679.1:g.7909909A>C GRCh37
NC_000017.9:g.7850634A>C NCBI36
NG_009092.1:g.8922A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1255A>C MANE Select ENSP00000254854.4:p.Met419Leu
ENST00000254854.4:c.1255A>C ENSP00000254854.4:p.Met419Leu
NM_000180.3:c.1255A>C NP_000171.1:p.Met419Leu
XM_011523816.1:c.1255A>C XP_011522118.1:p.Met419Leu
NM_000180.4:c.1255A>C MANE Select NP_000171.1:p.Met419Leu
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