Canonical Allele Identifier: CA397944404
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1370721862
gnomAD v2: 17-7906961-G-A
gnomAD v4: 17-8003643-G-A
MyVariant Identifiers: chr17:g.7906961G>A (hg19) chr17:g.8003643G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003643G>A , CM000679.2:g.8003643G>A GRCh38
NC_000017.10:g.7906961G>A , CM000679.1:g.7906961G>A GRCh37
NC_000017.9:g.7847686G>A NCBI36
NG_009092.1:g.5974G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.596G>A MANE Select ENSP00000254854.4:p.Arg199His
ENST00000254854.4:c.596G>A ENSP00000254854.4:p.Arg199His
NM_000180.3:c.596G>A NP_000171.1:p.Arg199His
XM_011523816.1:c.596G>A XP_011522118.1:p.Arg199His
NM_000180.4:c.596G>A MANE Select NP_000171.1:p.Arg199His
Search 100 bp 5'
Search 100 bp 3'