Canonical Allele Identifier: CA2011143
Gene: NEUROD1 HGNC NCBI
CERKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181678552G>T , CM000664.2:g.181678552G>T GRCh38
NC_000002.11:g.182543279G>T , CM000664.1:g.182543279G>T GRCh37
NC_000002.10:g.182251524G>T NCBI36
NG_011820.1:g.7103C>A
NG_011820.2:g.7113C>A
NG_011820.3:g.6966C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496876.2:n.398+1878C>A (NEUROD1)
ENST00000683166.1:n.91+1878C>A (NEUROD1)
ENST00000683430.1:c.309C>A (NEUROD1) ENSP00000506907.1:p.Arg103=
ENST00000684079.1:c.309C>A (NEUROD1) ENSP00000507492.1:p.Arg103=
ENST00000684145.1:c.-455+1878C>A (CERKL) ENSP00000508396.1:n.-455+1878C>A
ENST00000295108.4:c.309C>A (NEUROD1) MANE Select ENSP00000295108.3:p.Arg103=
ENST00000295108.3:c.309C>A (NEUROD1) ENSP00000295108.3:p.Arg103=
ENST00000479558.5:n.236+1878C>A (CERKL)
ENST00000496876.1:n.118+1878C>A (NEUROD1)
ENST00000497337.1:n.212+1878C>A (CERKL)
NM_002500.4:c.309C>A (NEUROD1) NP_002491.2:p.Arg103=
NR_146175.1:n.236+1878C>A (NEUROD1)
NR_146176.1:n.236+1878C>A (NEUROD1)
NR_146176.2:n.88+1878C>A (NEUROD1)
NM_002500.5:c.309C>A (NEUROD1) MANE Select NP_002491.3:p.Arg103=
NR_146175.2:n.88+1878C>A (NEUROD1)