Canonical Allele Identifier: CA444019343

Gene: GDNF

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37815654G>T , CM000667.2:g.37815654G>T	GRCh38
NC_000005.9:g.37815756G>T , CM000667.1:g.37815756G>T	GRCh37
NC_000005.8:g.37851513G>T	NCBI36
NG_011675.2:g.29027C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000514.4:c.633C>A MANE Select	NP_000505.1:p.Ile211=
ENST00000326524.7:c.633C>A MANE Select	ENSP00000317145.2:p.Ile211=
NM_000514.3:c.633C>A	NP_000505.1:p.Ile211=
NM_001190468.1:c.684C>A	NP_001177397.1:p.Ile228=
NM_001190469.1:c.606C>A	NP_001177398.1:p.Ile202=
NM_001278098.1:c.477C>A	NP_001265027.1:p.Ile159=
NM_199231.2:c.555C>A	NP_954701.1:p.Ile185=
ENST00000326524.6:c.633C>A	ENSP00000317145.2:p.Ile211=
ENST00000344622.8:c.555C>A	ENSP00000339703.4:p.Ile185=
ENST00000381826.8:c.606C>A	ENSP00000371248.4:p.Ile202=
ENST00000427982.5:c.684C>A	ENSP00000409007.1:p.Ile228=
ENST00000515058.5:c.555C>A	ENSP00000425928.1:p.Ile185=
ENST00000620847.1:c.477C>A	ENSP00000478722.1:p.Ile159=
XM_011514028.1:c.633C>A	XP_011512330.1:p.Ile211=
XM_011514029.1:c.633C>A	XP_011512331.1:p.Ile211=
XM_011514030.1:c.477C>A	XP_011512332.1:p.Ile159=
XM_011514030.3:c.477C>A	XP_011512332.1:p.Ile159=
XM_017009337.2:c.555C>A	XP_016864826.1:p.Ile185=