Canonical Allele Identifier: CA254549

Gene: GDNF

Linked Data

• ClinVar Variation Id: 8760
• ClinVar RCV Id: RCV000009305
• dbSNP Id: rs104893891
• MyVariant Identifiers: chr5:g.37815929T>A (hg19) ; chr5:g.37815827T>A (hg38)
• PubMed: PMID:8968758

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000326524.7:c.460A>T MANE Select	ENSP00000317145.2:p.Thr154Ser
ENST00000326524.6:c.460A>T	ENSP00000317145.2:p.Thr154Ser
ENST00000344622.8:c.382A>T	ENSP00000339703.4:p.Thr128Ser
ENST00000381826.8:c.433A>T	ENSP00000371248.4:p.Thr145Ser
ENST00000427982.5:c.511A>T	ENSP00000409007.1:p.Thr171Ser
ENST00000515058.5:c.382A>T	ENSP00000425928.1:p.Thr128Ser
ENST00000620847.1:c.304A>T	ENSP00000478722.1:p.Thr102Ser
NM_000514.3:c.460A>T	NP_000505.1:p.Thr154Ser
NM_001190468.1:c.511A>T	NP_001177397.1:p.Thr171Ser
NM_001190469.1:c.433A>T	NP_001177398.1:p.Thr145Ser
NM_001278098.1:c.304A>T	NP_001265027.1:p.Thr102Ser
NM_199231.2:c.382A>T	NP_954701.1:p.Thr128Ser
XM_011514028.1:c.460A>T	XP_011512330.1:p.Thr154Ser
XM_011514029.1:c.460A>T	XP_011512331.1:p.Thr154Ser
XM_011514030.1:c.304A>T	XP_011512332.1:p.Thr102Ser
XM_011514030.3:c.304A>T	XP_011512332.1:p.Thr102Ser
XM_017009337.2:c.382A>T	XP_016864826.1:p.Thr128Ser
NM_000514.4:c.460A>T MANE Select	NP_000505.1:p.Thr154Ser