Canonical Allele Identifier: CA497952796

Gene: GUCY2D

Linked Data

• gnomAD v4: 17-8003486-C-T
• MyVariant Identifiers: chr17:g.7906804C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8003486C>T , CM000679.2:g.8003486C>T	GRCh38
NC_000017.10:g.7906804C>T , CM000679.1:g.7906804C>T	GRCh37
NC_000017.9:g.7847529C>T	NCBI36
NG_009092.1:g.5817C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000254854.5:c.439C>T MANE Select	ENSP00000254854.4:p.Leu147=
ENST00000254854.4:c.439C>T	ENSP00000254854.4:p.Leu147=
NM_000180.3:c.439C>T	NP_000171.1:p.Leu147=
XM_011523816.1:c.439C>T	XP_011522118.1:p.Leu147=
NM_000180.4:c.439C>T MANE Select	NP_000171.1:p.Leu147=