Canonical Allele Identifier: CA397952633
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1598149293
gnomAD v4: 17-8012595-C-T
MyVariant Identifiers: chr17:g.7915913C>T (hg19) chr17:g.8012595C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012595C>T , CM000679.2:g.8012595C>T GRCh38
NC_000017.10:g.7915913C>T , CM000679.1:g.7915913C>T GRCh37
NC_000017.9:g.7856638C>T NCBI36
NG_009092.1:g.14926C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2102C>T MANE Select ENSP00000254854.4:p.Pro701Leu
ENST00000254854.4:c.2102C>T ENSP00000254854.4:p.Pro701Leu
NM_000180.3:c.2102C>T NP_000171.1:p.Pro701Leu
XM_011523816.1:c.2102C>T XP_011522118.1:p.Pro701Leu
NM_000180.4:c.2102C>T MANE Select NP_000171.1:p.Pro701Leu
Search 100 bp 5'
Search 100 bp 3'