Canonical Allele Identifier: CA359613684

Gene: GDNF

Linked Data

• MyVariant Identifiers: chr5:g.37815769C>T (hg19) ; chr5:g.37815667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37815667C>T , CM000667.2:g.37815667C>T	GRCh38
NC_000005.9:g.37815769C>T , CM000667.1:g.37815769C>T	GRCh37
NC_000005.8:g.37851526C>T	NCBI36
NG_011675.2:g.29014G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326524.7:c.620G>A MANE Select	ENSP00000317145.2:p.Arg207Lys
ENST00000326524.6:c.620G>A	ENSP00000317145.2:p.Arg207Lys
ENST00000344622.8:c.542G>A	ENSP00000339703.4:p.Arg181Lys
ENST00000381826.8:c.593G>A	ENSP00000371248.4:p.Arg198Lys
ENST00000427982.5:c.671G>A	ENSP00000409007.1:p.Arg224Lys
ENST00000515058.5:c.542G>A	ENSP00000425928.1:p.Arg181Lys
ENST00000620847.1:c.464G>A	ENSP00000478722.1:p.Arg155Lys
NM_000514.3:c.620G>A	NP_000505.1:p.Arg207Lys
NM_001190468.1:c.671G>A	NP_001177397.1:p.Arg224Lys
NM_001190469.1:c.593G>A	NP_001177398.1:p.Arg198Lys
NM_001278098.1:c.464G>A	NP_001265027.1:p.Arg155Lys
NM_199231.2:c.542G>A	NP_954701.1:p.Arg181Lys
XM_011514028.1:c.620G>A	XP_011512330.1:p.Arg207Lys
XM_011514029.1:c.620G>A	XP_011512331.1:p.Arg207Lys
XM_011514030.1:c.464G>A	XP_011512332.1:p.Arg155Lys
XM_011514030.3:c.464G>A	XP_011512332.1:p.Arg155Lys
XM_017009337.2:c.542G>A	XP_016864826.1:p.Arg181Lys
NM_000514.4:c.620G>A MANE Select	NP_000505.1:p.Arg207Lys