Canonical Allele Identifier: CA397943046
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8003298-T-C
MyVariant Identifiers: chr17:g.7906616T>C (hg19) chr17:g.8003298T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003298T>C , CM000679.2:g.8003298T>C GRCh38
NC_000017.10:g.7906616T>C , CM000679.1:g.7906616T>C GRCh37
NC_000017.9:g.7847341T>C NCBI36
NG_009092.1:g.5629T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.251T>C MANE Select ENSP00000254854.4:p.Leu84Pro
ENST00000254854.4:c.251T>C ENSP00000254854.4:p.Leu84Pro
NM_000180.3:c.251T>C NP_000171.1:p.Leu84Pro
XM_011523816.1:c.251T>C XP_011522118.1:p.Leu84Pro
NM_000180.4:c.251T>C MANE Select NP_000171.1:p.Leu84Pro
Search 100 bp 5'
Search 100 bp 3'