Canonical Allele Identifier: CA397951498
Gene: GUCY2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012234A>C , CM000679.2:g.8012234A>C GRCh38
NC_000017.10:g.7915552A>C , CM000679.1:g.7915552A>C GRCh37
NC_000017.9:g.7856277A>C NCBI36
NG_009092.1:g.14565A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1840A>C MANE Select ENSP00000254854.4:p.Asn614His
ENST00000254854.4:c.1840A>C ENSP00000254854.4:p.Asn614His
NM_000180.3:c.1840A>C NP_000171.1:p.Asn614His
XM_011523816.1:c.1840A>C XP_011522118.1:p.Asn614His
NM_000180.4:c.1840A>C MANE Select NP_000171.1:p.Asn614His