Canonical Allele Identifier: CA176138

Gene: GDNF

Linked Data

• ClinVar Variation Id: 163500
• ClinVar RCV Id: RCV000150717 ; RCV000264072 ; RCV001657856
• dbSNP Id: rs36010631
• ExAC: 5:37815960 C / T
• gnomAD v2: 5-37815960-C-T
• gnomAD v3: 5-37815858-C-T
• gnomAD v4: 5-37815858-C-T
• MyVariant Identifiers: chr5:g.37815960C>T (hg19) ; chr5:g.37815858C>T (hg38)
• PubMed: PMID:8968758

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=