Canonical Allele Identifier: CA397955181

Gene: GUCY2D

Linked Data

• MyVariant Identifiers: chr17:g.7919088T>G (hg19) ; chr17:g.8015770T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015770T>G , CM000679.2:g.8015770T>G	GRCh38
NC_000017.10:g.7919088T>G , CM000679.1:g.7919088T>G	GRCh37
NC_000017.9:g.7859813T>G	NCBI36
NG_009092.1:g.18101T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2972T>G MANE Select	ENSP00000254854.4:p.Leu991Arg
ENST00000254854.4:c.2972T>G	ENSP00000254854.4:p.Leu991Arg
NM_000180.3:c.2972T>G	NP_000171.1:p.Leu991Arg
XM_011523816.1:c.2972T>G	XP_011522118.1:p.Leu991Arg
NM_000180.4:c.2972T>G MANE Select	NP_000171.1:p.Leu991Arg