Canonical Allele Identifier: CA397952675
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1434526446
gnomAD v4: 17-8012606-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012606G>C , CM000679.2:g.8012606G>C GRCh38
NC_000017.10:g.7915924G>C , CM000679.1:g.7915924G>C GRCh37
NC_000017.9:g.7856649G>C NCBI36
NG_009092.1:g.14937G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2113G>C MANE Select ENSP00000254854.4:p.Asp705His
ENST00000254854.4:c.2113G>C ENSP00000254854.4:p.Asp705His
NM_000180.3:c.2113G>C NP_000171.1:p.Asp705His
XM_011523816.1:c.2113G>C XP_011522118.1:p.Asp705His
NM_000180.4:c.2113G>C MANE Select NP_000171.1:p.Asp705His