Canonical Allele Identifier: CA117493056

Gene: GDNF

Linked Data

• dbSNP Id: rs944493852
• gnomAD v2: 5-37815691-C-A
• gnomAD v3: 5-37815589-C-A
• gnomAD v4: 5-37815589-C-A
• MyVariant Identifiers: chr5:g.37815691C>A (hg19) ; chr5:g.37815589C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37815589C>A , CM000667.2:g.37815589C>A	GRCh38
NC_000005.9:g.37815691C>A , CM000667.1:g.37815691C>A	GRCh37
NC_000005.8:g.37851448C>A	NCBI36
NG_011675.2:g.29092G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326524.7:c.*62G>T MANE Select	ENSP00000317145.2:n.*62G>T
ENST00000326524.6:c.*62G>T	ENSP00000317145.2:n.*62G>T
ENST00000344622.8:c.*62G>T	ENSP00000339703.4:n.*62G>T
ENST00000620847.1:c.*62G>T	ENSP00000478722.1:n.*62G>T
NM_000514.3:c.*62G>T	NP_000505.1:n.*62G>T
NM_001190468.1:c.*62G>T	NP_001177397.1:n.*62G>T
NM_001190469.1:c.*62G>T	NP_001177398.1:n.*62G>T
NM_001278098.1:c.*62G>T	NP_001265027.1:n.*62G>T
NM_199231.2:c.*62G>T	NP_954701.1:n.*62G>T
XM_011514028.1:c.*62G>T	XP_011512330.1:n.*62G>T
XM_011514029.1:c.*62G>T	XP_011512331.1:n.*62G>T
XM_011514030.1:c.*62G>T	XP_011512332.1:n.*62G>T
XM_011514030.3:c.*62G>T	XP_011512332.1:n.*62G>T
XM_017009337.2:c.*62G>T	XP_016864826.1:n.*62G>T
NM_000514.4:c.*62G>T MANE Select	NP_000505.1:n.*62G>T