Canonical Allele Identifier: CA2673608517
Gene: GDNF HGNC NCBI

Linked Data

gnomAD v4: 5-37815588-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37815588A>G , CM000667.2:g.37815588A>G GRCh38
NC_000005.9:g.37815690A>G , CM000667.1:g.37815690A>G GRCh37
NC_000005.8:g.37851447A>G NCBI36
NG_011675.2:g.29093T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326524.7:c.*63T>C MANE Select ENSP00000317145.2:n.*63T>C
ENST00000326524.6:c.*63T>C ENSP00000317145.2:n.*63T>C
ENST00000344622.8:c.*63T>C ENSP00000339703.4:n.*63T>C
ENST00000620847.1:c.*63T>C ENSP00000478722.1:n.*63T>C
NM_000514.3:c.*63T>C NP_000505.1:n.*63T>C
NM_001190468.1:c.*63T>C NP_001177397.1:n.*63T>C
NM_001190469.1:c.*63T>C NP_001177398.1:n.*63T>C
NM_001278098.1:c.*63T>C NP_001265027.1:n.*63T>C
NM_199231.2:c.*63T>C NP_954701.1:n.*63T>C
XM_011514028.1:c.*63T>C XP_011512330.1:n.*63T>C
XM_011514029.1:c.*63T>C XP_011512331.1:n.*63T>C
XM_011514030.1:c.*63T>C XP_011512332.1:n.*63T>C
XM_011514030.3:c.*63T>C XP_011512332.1:n.*63T>C
XM_017009337.2:c.*63T>C XP_016864826.1:n.*63T>C
NM_000514.4:c.*63T>C MANE Select NP_000505.1:n.*63T>C