Canonical Allele Identifier: CA559181069

Gene: GDNF

Linked Data

• dbSNP Id: rs1330355530
• gnomAD v2: 5-37815680-T-C
• gnomAD v3: 5-37815578-T-C
• gnomAD v4: 5-37815578-T-C
• MyVariant Identifiers: chr5:g.37815680T>C (hg19) ; chr5:g.37815578T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37815578T>C , CM000667.2:g.37815578T>C	GRCh38
NC_000005.9:g.37815680T>C , CM000667.1:g.37815680T>C	GRCh37
NC_000005.8:g.37851437T>C	NCBI36
NG_011675.2:g.29103A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326524.7:c.*73A>G MANE Select	ENSP00000317145.2:n.*73A>G
ENST00000326524.6:c.*73A>G	ENSP00000317145.2:n.*73A>G
ENST00000344622.8:c.*73A>G	ENSP00000339703.4:n.*73A>G
ENST00000620847.1:c.*73A>G	ENSP00000478722.1:n.*73A>G
NM_000514.3:c.*73A>G	NP_000505.1:n.*73A>G
NM_001190468.1:c.*73A>G	NP_001177397.1:n.*73A>G
NM_001190469.1:c.*73A>G	NP_001177398.1:n.*73A>G
NM_001278098.1:c.*73A>G	NP_001265027.1:n.*73A>G
NM_199231.2:c.*73A>G	NP_954701.1:n.*73A>G
XM_011514028.1:c.*73A>G	XP_011512330.1:n.*73A>G
XM_011514029.1:c.*73A>G	XP_011512331.1:n.*73A>G
XM_011514030.1:c.*73A>G	XP_011512332.1:n.*73A>G
XM_011514030.3:c.*73A>G	XP_011512332.1:n.*73A>G
XM_017009337.2:c.*73A>G	XP_016864826.1:n.*73A>G
NM_000514.4:c.*73A>G MANE Select	NP_000505.1:n.*73A>G