Canonical Allele Identifier: CA10624714

Gene: GDNF

Linked Data

• ClinVar Variation Id: 353494
• ClinVar RCV Id: RCV000353012
• dbSNP Id: rs3749692
• gnomAD v2: 5-37814148-A-G
• gnomAD v3: 5-37814046-A-G
• gnomAD v4: 5-37814046-A-G
• MyVariant Identifiers: chr5:g.37814148A>G (hg19) ; chr5:g.37814046A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37814046A>G , CM000667.2:g.37814046A>G	GRCh38
NC_000005.9:g.37814148A>G , CM000667.1:g.37814148A>G	GRCh37
NC_000005.8:g.37849905A>G	NCBI36
NG_011675.2:g.30635T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326524.7:c.*1605T>C MANE Select	ENSP00000317145.2:n.*1605T>C
ENST00000326524.6:c.*1605T>C	ENSP00000317145.2:n.*1605T>C
ENST00000344622.8:c.*1605T>C	ENSP00000339703.4:n.*1605T>C
ENST00000620847.1:c.*1605T>C	ENSP00000478722.1:n.*1605T>C
NM_000514.3:c.*1605T>C	NP_000505.1:n.*1605T>C
NM_001190468.1:c.*1605T>C	NP_001177397.1:n.*1605T>C
NM_001190469.1:c.*1605T>C	NP_001177398.1:n.*1605T>C
NM_001278098.1:c.*1605T>C	NP_001265027.1:n.*1605T>C
NM_199231.2:c.*1605T>C	NP_954701.1:n.*1605T>C
XM_011514028.1:c.*1605T>C	XP_011512330.1:n.*1605T>C
XM_011514029.1:c.*1605T>C	XP_011512331.1:n.*1605T>C
NM_000514.4:c.*1605T>C MANE Select	NP_000505.1:n.*1605T>C