Canonical Allele Identifier: CA359613681

Gene: GDNF

Linked Data

• dbSNP Id: rs1312433939
• gnomAD v2: 5-37815768-C-G
• gnomAD v4: 5-37815666-C-G
• MyVariant Identifiers: chr5:g.37815768C>G (hg19) ; chr5:g.37815666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37815666C>G , CM000667.2:g.37815666C>G	GRCh38
NC_000005.9:g.37815768C>G , CM000667.1:g.37815768C>G	GRCh37
NC_000005.8:g.37851525C>G	NCBI36
NG_011675.2:g.29015G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326524.7:c.621G>C MANE Select	ENSP00000317145.2:p.Arg207Ser
ENST00000326524.6:c.621G>C	ENSP00000317145.2:p.Arg207Ser
ENST00000344622.8:c.543G>C	ENSP00000339703.4:p.Arg181Ser
ENST00000381826.8:c.594G>C	ENSP00000371248.4:p.Arg198Ser
ENST00000427982.5:c.672G>C	ENSP00000409007.1:p.Arg224Ser
ENST00000515058.5:c.543G>C	ENSP00000425928.1:p.Arg181Ser
ENST00000620847.1:c.465G>C	ENSP00000478722.1:p.Arg155Ser
NM_000514.3:c.621G>C	NP_000505.1:p.Arg207Ser
NM_001190468.1:c.672G>C	NP_001177397.1:p.Arg224Ser
NM_001190469.1:c.594G>C	NP_001177398.1:p.Arg198Ser
NM_001278098.1:c.465G>C	NP_001265027.1:p.Arg155Ser
NM_199231.2:c.543G>C	NP_954701.1:p.Arg181Ser
XM_011514028.1:c.621G>C	XP_011512330.1:p.Arg207Ser
XM_011514029.1:c.621G>C	XP_011512331.1:p.Arg207Ser
XM_011514030.1:c.465G>C	XP_011512332.1:p.Arg155Ser
XM_011514030.3:c.465G>C	XP_011512332.1:p.Arg155Ser
XM_017009337.2:c.543G>C	XP_016864826.1:p.Arg181Ser
NM_000514.4:c.621G>C MANE Select	NP_000505.1:p.Arg207Ser