Canonical Allele Identifier: CA2011065

Gene: NEUROD1 CERKL

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181678100T>G , CM000664.2:g.181678100T>G	GRCh38
NC_000002.11:g.182542827T>G , CM000664.1:g.182542827T>G	GRCh37
NC_000002.10:g.182251072T>G	NCBI36
NG_011820.1:g.7555A>C
NG_011820.2:g.7565A>C
NG_011820.3:g.7418A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002500.5:c.761A>C (NEUROD1) MANE Select	NP_002491.3:p.Glu254Ala
ENST00000295108.4:c.761A>C (NEUROD1) MANE Select	ENSP00000295108.3:p.Glu254Ala
NM_002500.4:c.761A>C (NEUROD1)	NP_002491.2:p.Glu254Ala
NR_146175.1:n.236+2330A>C (NEUROD1)
NR_146175.2:n.88+2330A>C (NEUROD1)
NR_146176.1:n.236+2330A>C (NEUROD1)
NR_146176.2:n.88+2330A>C (NEUROD1)
ENST00000295108.3:c.761A>C (NEUROD1)	ENSP00000295108.3:p.Glu254Ala
ENST00000479558.5:n.236+2330A>C (CERKL)
ENST00000496876.1:n.118+2330A>C (NEUROD1)
ENST00000496876.2:n.398+2330A>C (NEUROD1)
ENST00000497337.1:n.212+2330A>C (CERKL)
ENST00000683166.1:n.91+2330A>C (NEUROD1)
ENST00000683430.1:c.761A>C (NEUROD1)	ENSP00000506907.1:p.Glu254Ala
ENST00000684079.1:c.761A>C (NEUROD1)	ENSP00000507492.1:p.Glu254Ala
ENST00000684145.1:c.-455+2330A>C (CERKL)	ENSP00000508396.1:n.-455+2330A>C