Canonical Allele Identifier: CA359614040
Gene: GDNF HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37815827T>C , CM000667.2:g.37815827T>C GRCh38
NC_000005.9:g.37815929T>C , CM000667.1:g.37815929T>C GRCh37
NC_000005.8:g.37851686T>C NCBI36
NG_011675.2:g.28854A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326524.7:c.460A>G MANE Select ENSP00000317145.2:p.Thr154Ala
ENST00000326524.6:c.460A>G ENSP00000317145.2:p.Thr154Ala
ENST00000344622.8:c.382A>G ENSP00000339703.4:p.Thr128Ala
ENST00000381826.8:c.433A>G ENSP00000371248.4:p.Thr145Ala
ENST00000427982.5:c.511A>G ENSP00000409007.1:p.Thr171Ala
ENST00000515058.5:c.382A>G ENSP00000425928.1:p.Thr128Ala
ENST00000620847.1:c.304A>G ENSP00000478722.1:p.Thr102Ala
NM_000514.3:c.460A>G NP_000505.1:p.Thr154Ala
NM_001190468.1:c.511A>G NP_001177397.1:p.Thr171Ala
NM_001190469.1:c.433A>G NP_001177398.1:p.Thr145Ala
NM_001278098.1:c.304A>G NP_001265027.1:p.Thr102Ala
NM_199231.2:c.382A>G NP_954701.1:p.Thr128Ala
XM_011514028.1:c.460A>G XP_011512330.1:p.Thr154Ala
XM_011514029.1:c.460A>G XP_011512331.1:p.Thr154Ala
XM_011514030.1:c.304A>G XP_011512332.1:p.Thr102Ala
XM_011514030.3:c.304A>G XP_011512332.1:p.Thr102Ala
XM_017009337.2:c.382A>G XP_016864826.1:p.Thr128Ala
NM_000514.4:c.460A>G MANE Select NP_000505.1:p.Thr154Ala