Canonical Allele Identifier: CA397951887

Gene: GUCY2D

Linked Data

• MyVariant Identifiers: chr17:g.7915648C>T (hg19) ; chr17:g.8012330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8012330C>T , CM000679.2:g.8012330C>T	GRCh38
NC_000017.10:g.7915648C>T , CM000679.1:g.7915648C>T	GRCh37
NC_000017.9:g.7856373C>T	NCBI36
NG_009092.1:g.14661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1936C>T MANE Select	ENSP00000254854.4:p.Leu646Phe
ENST00000254854.4:c.1936C>T	ENSP00000254854.4:p.Leu646Phe
NM_000180.3:c.1936C>T	NP_000171.1:p.Leu646Phe
XM_011523816.1:c.1936C>T	XP_011522118.1:p.Leu646Phe
NM_000180.4:c.1936C>T MANE Select	NP_000171.1:p.Leu646Phe