Canonical Allele Identifier: CA359613662

Gene: GDNF

Linked Data

• MyVariant Identifiers: chr5:g.37815760C>T (hg19) ; chr5:g.37815658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37815658C>T , CM000667.2:g.37815658C>T	GRCh38
NC_000005.9:g.37815760C>T , CM000667.1:g.37815760C>T	GRCh37
NC_000005.8:g.37851517C>T	NCBI36
NG_011675.2:g.29023G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326524.7:c.629G>A MANE Select	ENSP00000317145.2:p.Cys210Tyr
ENST00000326524.6:c.629G>A	ENSP00000317145.2:p.Cys210Tyr
ENST00000344622.8:c.551G>A	ENSP00000339703.4:p.Cys184Tyr
ENST00000381826.8:c.602G>A	ENSP00000371248.4:p.Cys201Tyr
ENST00000427982.5:c.680G>A	ENSP00000409007.1:p.Cys227Tyr
ENST00000515058.5:c.551G>A	ENSP00000425928.1:p.Cys184Tyr
ENST00000620847.1:c.473G>A	ENSP00000478722.1:p.Cys158Tyr
NM_000514.3:c.629G>A	NP_000505.1:p.Cys210Tyr
NM_001190468.1:c.680G>A	NP_001177397.1:p.Cys227Tyr
NM_001190469.1:c.602G>A	NP_001177398.1:p.Cys201Tyr
NM_001278098.1:c.473G>A	NP_001265027.1:p.Cys158Tyr
NM_199231.2:c.551G>A	NP_954701.1:p.Cys184Tyr
XM_011514028.1:c.629G>A	XP_011512330.1:p.Cys210Tyr
XM_011514029.1:c.629G>A	XP_011512331.1:p.Cys210Tyr
XM_011514030.1:c.473G>A	XP_011512332.1:p.Cys158Tyr
XM_011514030.3:c.473G>A	XP_011512332.1:p.Cys158Tyr
XM_017009337.2:c.551G>A	XP_016864826.1:p.Cys184Tyr
NM_000514.4:c.629G>A MANE Select	NP_000505.1:p.Cys210Tyr