Canonical Allele Identifier: CA154055

Gene: NEUROD1 CERKL

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181678271G>T , CM000664.2:g.181678271G>T	GRCh38
NC_000002.11:g.182542998G>T , CM000664.1:g.182542998G>T	GRCh37
NC_000002.10:g.182251243G>T	NCBI36
NG_011820.1:g.7384C>A
NG_011820.2:g.7394C>A
NG_011820.3:g.7247C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002500.5:c.590C>A (NEUROD1) MANE Select	NP_002491.3:p.Pro197His
ENST00000295108.4:c.590C>A (NEUROD1) MANE Select	ENSP00000295108.3:p.Pro197His
NM_002500.4:c.590C>A (NEUROD1)	NP_002491.2:p.Pro197His
NR_146175.1:n.236+2159C>A (NEUROD1)
NR_146175.2:n.88+2159C>A (NEUROD1)
NR_146176.1:n.236+2159C>A (NEUROD1)
NR_146176.2:n.88+2159C>A (NEUROD1)
ENST00000295108.3:c.590C>A (NEUROD1)	ENSP00000295108.3:p.Pro197His
ENST00000479558.5:n.236+2159C>A (CERKL)
ENST00000496876.1:n.118+2159C>A (NEUROD1)
ENST00000496876.2:n.398+2159C>A (NEUROD1)
ENST00000497337.1:n.212+2159C>A (CERKL)
ENST00000683166.1:n.91+2159C>A (NEUROD1)
ENST00000683430.1:c.590C>A (NEUROD1)	ENSP00000506907.1:p.Pro197His
ENST00000684079.1:c.590C>A (NEUROD1)	ENSP00000507492.1:p.Pro197His
ENST00000684145.1:c.-455+2159C>A (CERKL)	ENSP00000508396.1:n.-455+2159C>A