Canonical Allele Identifier: CA2246114017

Gene: GUCY2D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8012331T= , CM000679.2:g.8012331T=	GRCh38
NC_000017.10:g.7915649T= , CM000679.1:g.7915649T=	GRCh37
NC_000017.9:g.7856374T=	NCBI36
NG_009092.1:g.14662T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1937T= MANE Select	ENSP00000254854.4:p.Leu646=
ENST00000254854.4:c.1937T=	ENSP00000254854.4:p.Leu646=
NM_000180.3:c.1937T=	NP_000171.1:p.Leu646=
XM_011523816.1:c.1937T=	XP_011522118.1:p.Leu646=
NM_000180.4:c.1937T= MANE Select	NP_000171.1:p.Leu646=