Canonical Allele Identifier: CA1539956748
Community Standard Title: NM_000514.4(GDNF):c.152-1107T>G
Gene: GDNF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37817242A>C , CM000667.2:g.37817242A>C GRCh38
NC_000005.9:g.37817344A>C , CM000667.1:g.37817344A>C GRCh37
NC_000005.8:g.37853101A>C NCBI36
NG_011675.2:g.27439T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000514.4:c.152-1107T>G MANE Select NP_000505.1:n.152-1107T>G
ENST00000326524.7:c.152-1107T>G MANE Select ENSP00000317145.2:n.152-1107T>G
NM_000514.3:c.152-1107T>G NP_000505.1:n.152-1107T>G
NM_001190468.1:c.203-1107T>G NP_001177397.1:n.203-1107T>G
NM_001190469.1:c.125-1107T>G NP_001177398.1:n.125-1107T>G
NM_001278098.1:c.-5-1107T>G NP_001265027.1:n.-5-1107T>G
NM_199231.2:c.74-1107T>G NP_954701.1:n.74-1107T>G
ENST00000326524.6:c.152-1107T>G ENSP00000317145.2:n.152-1107T>G
ENST00000344622.8:c.74-1107T>G ENSP00000339703.4:n.74-1107T>G
ENST00000381826.8:c.125-1107T>G ENSP00000371248.4:n.125-1107T>G
ENST00000427982.5:c.203-1107T>G ENSP00000409007.1:n.203-1107T>G
ENST00000502572.1:c.74-1107T>G ENSP00000423557.1:n.74-1107T>G
ENST00000510177.5:c.74-1107T>G ENSP00000424592.1:n.74-1107T>G
ENST00000515058.5:c.74-1107T>G ENSP00000425928.1:n.74-1107T>G
ENST00000620847.1:c.-5-1107T>G ENSP00000478722.1:n.-5-1107T>G
XM_011514028.1:c.152-1107T>G XP_011512330.1:n.152-1107T>G
XM_011514029.1:c.152-1107T>G XP_011512331.1:n.152-1107T>G
XM_011514030.1:c.-5-1107T>G XP_011512332.1:n.-5-1107T>G
XM_011514030.3:c.-5-1107T>G XP_011512332.1:n.-5-1107T>G
XM_017009337.2:c.74-1107T>G XP_016864826.1:n.74-1107T>G