Canonical Allele Identifier: CA497952839
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8003230-C-T
MyVariant Identifiers: chr17:g.7906548C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003230C>T , CM000679.2:g.8003230C>T GRCh38
NC_000017.10:g.7906548C>T , CM000679.1:g.7906548C>T GRCh37
NC_000017.9:g.7847273C>T NCBI36
NG_009092.1:g.5561C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.183C>T MANE Select ENSP00000254854.4:p.Pro61=
ENST00000254854.4:c.183C>T ENSP00000254854.4:p.Pro61=
NM_000180.3:c.183C>T NP_000171.1:p.Pro61=
XM_011523816.1:c.183C>T XP_011522118.1:p.Pro61=
NM_000180.4:c.183C>T MANE Select NP_000171.1:p.Pro61=