Canonical Allele Identifier: CA359613674

Gene: GDNF

Linked Data

• MyVariant Identifiers: chr5:g.37815766C>A (hg19) ; chr5:g.37815664C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37815664C>A , CM000667.2:g.37815664C>A	GRCh38
NC_000005.9:g.37815766C>A , CM000667.1:g.37815766C>A	GRCh37
NC_000005.8:g.37851523C>A	NCBI36
NG_011675.2:g.29017G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326524.7:c.623G>T MANE Select	ENSP00000317145.2:p.Cys208Phe
ENST00000326524.6:c.623G>T	ENSP00000317145.2:p.Cys208Phe
ENST00000344622.8:c.545G>T	ENSP00000339703.4:p.Cys182Phe
ENST00000381826.8:c.596G>T	ENSP00000371248.4:p.Cys199Phe
ENST00000427982.5:c.674G>T	ENSP00000409007.1:p.Cys225Phe
ENST00000515058.5:c.545G>T	ENSP00000425928.1:p.Cys182Phe
ENST00000620847.1:c.467G>T	ENSP00000478722.1:p.Cys156Phe
NM_000514.3:c.623G>T	NP_000505.1:p.Cys208Phe
NM_001190468.1:c.674G>T	NP_001177397.1:p.Cys225Phe
NM_001190469.1:c.596G>T	NP_001177398.1:p.Cys199Phe
NM_001278098.1:c.467G>T	NP_001265027.1:p.Cys156Phe
NM_199231.2:c.545G>T	NP_954701.1:p.Cys182Phe
XM_011514028.1:c.623G>T	XP_011512330.1:p.Cys208Phe
XM_011514029.1:c.623G>T	XP_011512331.1:p.Cys208Phe
XM_011514030.1:c.467G>T	XP_011512332.1:p.Cys156Phe
XM_011514030.3:c.467G>T	XP_011512332.1:p.Cys156Phe
XM_017009337.2:c.545G>T	XP_016864826.1:p.Cys182Phe
NM_000514.4:c.623G>T MANE Select	NP_000505.1:p.Cys208Phe