Canonical Allele Identifier: CA2629161943

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207510-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207510A>C , CM000677.2:g.68207510A>C	GRCh38
NC_000015.9:g.68499848A>C , CM000677.1:g.68499848A>C	GRCh37
NC_000015.8:g.66286902A>C	NCBI36
NG_008764.2:g.54702T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*630T>G MANE Select	ENSP00000249806.5:n.*630T>G
ENST00000562767.2:c.84-9882T>G	ENSP00000456336.1:n.84-9882T>G
ENST00000636964.1:n.3094T>G
ENST00000637054.1:c.199-9882T>G	ENSP00000490807.1:n.199-9882T>G
ENST00000637888.1:c.199-9882T>G	ENSP00000490546.1:n.199-9882T>G
ENST00000638026.1:n.171T>G
ENST00000638076.1:c.*1169T>G	ENSP00000490373.1:n.*1169T>G
ENST00000646164.1:c.39-7829T>G
ENST00000249806.9:c.*630T>G	ENSP00000249806.5:n.*630T>G
ENST00000562767.1:c.84-9882T>G	ENSP00000456336.1:n.84-9882T>G
NM_017882.2:c.*630T>G	NP_060352.1:n.*630T>G
NM_017882.3:c.*630T>G MANE Select	NP_060352.1:n.*630T>G