Canonical Allele Identifier: CA176138
Gene: GDNF HGNC NCBI

Linked Data

ClinVar Variation Id: 163500
dbSNP Id: rs36010631
gnomAD v2: 5-37815960-C-T
gnomAD v3: 5-37815858-C-T
gnomAD v4: 5-37815858-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37815858C>T , CM000667.2:g.37815858C>T GRCh38
NC_000005.9:g.37815960C>T , CM000667.1:g.37815960C>T GRCh37
NC_000005.8:g.37851717C>T NCBI36
NG_011675.2:g.28823G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326524.7:c.429G>A MANE Select ENSP00000317145.2:p.Arg143=
ENST00000326524.6:c.429G>A ENSP00000317145.2:p.Arg143=
ENST00000344622.8:c.351G>A ENSP00000339703.4:p.Arg117=
ENST00000381826.8:c.402G>A ENSP00000371248.4:p.Arg134=
ENST00000427982.5:c.480G>A ENSP00000409007.1:p.Arg160=
ENST00000515058.5:c.351G>A ENSP00000425928.1:p.Arg117=
ENST00000620847.1:c.273G>A ENSP00000478722.1:p.Arg91=
NM_000514.3:c.429G>A NP_000505.1:p.Arg143=
NM_001190468.1:c.480G>A NP_001177397.1:p.Arg160=
NM_001190469.1:c.402G>A NP_001177398.1:p.Arg134=
NM_001278098.1:c.273G>A NP_001265027.1:p.Arg91=
NM_199231.2:c.351G>A NP_954701.1:p.Arg117=
XM_011514028.1:c.429G>A XP_011512330.1:p.Arg143=
XM_011514029.1:c.429G>A XP_011512331.1:p.Arg143=
XM_011514030.1:c.273G>A XP_011512332.1:p.Arg91=
XM_011514030.3:c.273G>A XP_011512332.1:p.Arg91=
XM_017009337.2:c.351G>A XP_016864826.1:p.Arg117=
NM_000514.4:c.429G>A MANE Select NP_000505.1:p.Arg143=