Canonical Allele Identifier: CA392973175
Community Standard Title: NM_017882.3(CLN6):c.510C>G (p.Tyr170Ter)
Gene: CLN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68211295G>C , CM000677.2:g.68211295G>C GRCh38
NC_000015.9:g.68503633G>C , CM000677.1:g.68503633G>C GRCh37
NC_000015.8:g.66290687G>C NCBI36
NG_008764.2:g.50917C>G

Transcript Alleles

HGVS Amino-acid Change
NM_017882.3:c.510C>G MANE Select NP_060352.1:p.Tyr170Ter
ENST00000249806.11:c.510C>G MANE Select ENSP00000249806.5:p.Tyr170Ter
NM_017882.2:c.510C>G NP_060352.1:p.Tyr170Ter
ENST00000249806.9:c.510C>G ENSP00000249806.5:p.Tyr170Ter
ENST00000538696.5:c.606C>G ENSP00000445770.1:p.Tyr202Ter
ENST00000562767.1:c.84-13667C>G ENSP00000456336.1:n.84-13667C>G
ENST00000562767.2:c.84-13667C>G ENSP00000456336.1:n.84-13667C>G
ENST00000563917.1:n.410C>G
ENST00000563917.2:n.352C>G
ENST00000564752.1:c.536C>G ENSP00000457822.1:p.Thr179Ser
ENST00000565471.5:c.84-1536C>G ENSP00000457384.1:n.84-1536C>G
ENST00000565471.6:c.84-1536C>G ENSP00000457384.1:n.84-1536C>G
ENST00000566347.5:c.321C>G ENSP00000457783.1:p.Tyr107Ter
ENST00000567060.5:c.298-1575C>G ENSP00000454818.1:n.298-1575C>G
ENST00000635747.1:c.*413C>G ENSP00000490627.1:n.*413C>G
ENST00000636212.1:c.*180C>G ENSP00000489851.1:n.*180C>G
ENST00000636314.1:c.206C>G ENSP00000490295.1:p.Thr69Ser
ENST00000636674.1:n.1612C>G
ENST00000636964.1:n.2038C>G
ENST00000637054.1:c.198+7241C>G ENSP00000490807.1:n.198+7241C>G
ENST00000637223.1:c.*224C>G ENSP00000490010.1:n.*224C>G
ENST00000637329.1:c.479C>G
ENST00000637450.1:c.*164C>G ENSP00000490204.1:n.*164C>G
ENST00000637494.1:c.222C>G ENSP00000490057.1:p.Tyr74Ter
ENST00000637667.1:c.411C>G ENSP00000489843.1:p.Tyr137Ter
ENST00000637823.1:c.335C>G
ENST00000637888.1:c.198+7241C>G ENSP00000490546.1:n.198+7241C>G
ENST00000638076.1:c.*113C>G ENSP00000490373.1:n.*113C>G
ENST00000638144.1:n.153C>G
ENST00000646164.1:c.38+7241C>G
XR_931861.1:n.732C>G