Canonical Allele Identifier: CA397942975
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8003259-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003259C>T , CM000679.2:g.8003259C>T GRCh38
NC_000017.10:g.7906577C>T , CM000679.1:g.7906577C>T GRCh37
NC_000017.9:g.7847302C>T NCBI36
NG_009092.1:g.5590C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.212C>T MANE Select ENSP00000254854.4:p.Ala71Val
ENST00000254854.4:c.212C>T ENSP00000254854.4:p.Ala71Val
NM_000180.3:c.212C>T NP_000171.1:p.Ala71Val
XM_011523816.1:c.212C>T XP_011522118.1:p.Ala71Val
NM_000180.4:c.212C>T MANE Select NP_000171.1:p.Ala71Val