Canonical Allele Identifier: CA397952538
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8012570-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012570G>T , CM000679.2:g.8012570G>T GRCh38
NC_000017.10:g.7915888G>T , CM000679.1:g.7915888G>T GRCh37
NC_000017.9:g.7856613G>T NCBI36
NG_009092.1:g.14901G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2077G>T MANE Select ENSP00000254854.4:p.Ala693Ser
ENST00000254854.4:c.2077G>T ENSP00000254854.4:p.Ala693Ser
NM_000180.3:c.2077G>T NP_000171.1:p.Ala693Ser
XM_011523816.1:c.2077G>T XP_011522118.1:p.Ala693Ser
NM_000180.4:c.2077G>T MANE Select NP_000171.1:p.Ala693Ser