Canonical Allele Identifier: CA2578293239
Gene: GDNF HGNC NCBI

Linked Data

gnomAD v4: 5-37815570-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37815570G>A , CM000667.2:g.37815570G>A GRCh38
NC_000005.9:g.37815672G>A , CM000667.1:g.37815672G>A GRCh37
NC_000005.8:g.37851429G>A NCBI36
NG_011675.2:g.29111C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000326524.7:c.*81C>T MANE Select ENSP00000317145.2:n.*81C>T
ENST00000326524.6:c.*81C>T ENSP00000317145.2:n.*81C>T
ENST00000344622.8:c.*81C>T ENSP00000339703.4:n.*81C>T
ENST00000620847.1:c.*81C>T ENSP00000478722.1:n.*81C>T
NM_000514.3:c.*81C>T NP_000505.1:n.*81C>T
NM_001190468.1:c.*81C>T NP_001177397.1:n.*81C>T
NM_001190469.1:c.*81C>T NP_001177398.1:n.*81C>T
NM_001278098.1:c.*81C>T NP_001265027.1:n.*81C>T
NM_199231.2:c.*81C>T NP_954701.1:n.*81C>T
XM_011514028.1:c.*81C>T XP_011512330.1:n.*81C>T
XM_011514029.1:c.*81C>T XP_011512331.1:n.*81C>T
XM_011514030.1:c.*81C>T XP_011512332.1:n.*81C>T
XM_011514030.3:c.*81C>T XP_011512332.1:n.*81C>T
XM_017009337.2:c.*81C>T XP_016864826.1:n.*81C>T
NM_000514.4:c.*81C>T MANE Select NP_000505.1:n.*81C>T