Canonical Allele Identifier: CA14538285
Gene: CCBE1 HGNC NCBI

Linked Data

dbSNP Id: rs11152166

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59647575C>T , CM000680.2:g.59647575C>T GRCh38
NC_000018.9:g.57314807C>T , CM000680.1:g.57314807C>T GRCh37
NC_000018.8:g.55465787C>T NCBI36
NG_016990.1:g.54838G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000589419.2:n.215+18501G>A
ENST00000650467.2:c.212+49054G>A ENSP00000496897.2:n.212+49054G>A
ENST00000695903.1:c.212+49054G>A ENSP00000512255.1:n.212+49054G>A
ENST00000695904.1:c.212+49054G>A ENSP00000512259.1:n.212+49054G>A
ENST00000439986.9:c.212+49054G>A MANE Select ENSP00000404464.2:n.212+49054G>A
ENST00000649564.1:c.212+49054G>A ENSP00000497183.1:n.212+49054G>A
ENST00000650467.1:c.90+49054G>A
ENST00000439986.8:c.212+49054G>A ENSP00000404464.2:n.212+49054G>A
ENST00000589419.1:c.-362+18501G>A ENSP00000467710.1:n.-362+18501G>A
NM_133459.3:c.212+49054G>A NP_597716.1:n.212+49054G>A
XM_005266648.2:c.212+49054G>A XP_005266705.1:n.212+49054G>A
NM_133459.4:c.212+49054G>A MANE Select NP_597716.1:n.212+49054G>A
XM_017025556.1:c.212+49054G>A XP_016881045.1:n.212+49054G>A
XM_017025557.1:c.212+49054G>A XP_016881046.1:n.212+49054G>A
XM_017025558.1:c.212+49054G>A XP_016881047.1:n.212+49054G>A
XM_024451091.1:c.212+49054G>A XP_024306859.1:n.212+49054G>A
XR_001753142.1:n.1051+49054G>A