Canonical Allele Identifier: CA1539973453
Community Standard Title: NM_000514.4(GDNF):c.151+5363G>C
Gene: GDNF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37829283C>G , CM000667.2:g.37829283C>G GRCh38
NC_000005.9:g.37829385C>G , CM000667.1:g.37829385C>G GRCh37
NC_000005.8:g.37865142C>G NCBI36
NG_011675.2:g.15398G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000514.4:c.151+5363G>C MANE Select NP_000505.1:n.151+5363G>C
ENST00000326524.7:c.151+5363G>C MANE Select ENSP00000317145.2:n.151+5363G>C
NM_000514.3:c.151+5363G>C NP_000505.1:n.151+5363G>C
NM_001190468.1:c.202+5363G>C NP_001177397.1:n.202+5363G>C
NM_001190469.1:c.124+5441G>C NP_001177398.1:n.124+5441G>C
NM_001278098.1:c.-85-5194G>C NP_001265027.1:n.-85-5194G>C
NM_199231.2:c.73+5441G>C NP_954701.1:n.73+5441G>C
ENST00000326524.6:c.151+5363G>C ENSP00000317145.2:n.151+5363G>C
ENST00000344622.8:c.73+5441G>C ENSP00000339703.4:n.73+5441G>C
ENST00000381826.8:c.124+5441G>C ENSP00000371248.4:n.124+5441G>C
ENST00000427982.5:c.202+5363G>C ENSP00000409007.1:n.202+5363G>C
ENST00000502572.1:c.73+5441G>C ENSP00000423557.1:n.73+5441G>C
ENST00000510177.5:c.73+5441G>C ENSP00000424592.1:n.73+5441G>C
ENST00000515058.5:c.73+5441G>C ENSP00000425928.1:n.73+5441G>C
ENST00000620847.1:c.-85-5194G>C ENSP00000478722.1:n.-85-5194G>C
XM_011514028.1:c.151+5363G>C XP_011512330.1:n.151+5363G>C
XM_011514029.1:c.151+5363G>C XP_011512331.1:n.151+5363G>C
XM_011514030.1:c.-6+10224G>C XP_011512332.1:n.-6+10224G>C
XM_011514030.3:c.-6+10224G>C XP_011512332.1:n.-6+10224G>C
XM_017009337.2:c.73+5441G>C XP_016864826.1:n.73+5441G>C