Canonical Allele Identifier: CA397955133

Gene: GUCY2D

Linked Data

• MyVariant Identifiers: chr17:g.7919078G>T (hg19) ; chr17:g.8015760G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015760G>T , CM000679.2:g.8015760G>T	GRCh38
NC_000017.10:g.7919078G>T , CM000679.1:g.7919078G>T	GRCh37
NC_000017.9:g.7859803G>T	NCBI36
NG_009092.1:g.18091G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2962G>T MANE Select	ENSP00000254854.4:p.Val988Leu
ENST00000254854.4:c.2962G>T	ENSP00000254854.4:p.Val988Leu
NM_000180.3:c.2962G>T	NP_000171.1:p.Val988Leu
XM_011523816.1:c.2962G>T	XP_011522118.1:p.Val988Leu
NM_000180.4:c.2962G>T MANE Select	NP_000171.1:p.Val988Leu