Canonical Allele Identifier: CA497953485
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs56130505
gnomAD v4: 17-8012602-G-T
MyVariant Identifiers: chr17:g.7915920G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012602G>T , CM000679.2:g.8012602G>T GRCh38
NC_000017.10:g.7915920G>T , CM000679.1:g.7915920G>T GRCh37
NC_000017.9:g.7856645G>T NCBI36
NG_009092.1:g.14933G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2109G>T MANE Select ENSP00000254854.4:p.Ala703=
ENST00000254854.4:c.2109G>T ENSP00000254854.4:p.Ala703=
NM_000180.3:c.2109G>T NP_000171.1:p.Ala703=
XM_011523816.1:c.2109G>T XP_011522118.1:p.Ala703=
NM_000180.4:c.2109G>T MANE Select NP_000171.1:p.Ala703=
Search 100 bp 5'
Search 100 bp 3'