Canonical Allele Identifier: CA2629162074

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207631-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207631A>G , CM000677.2:g.68207631A>G	GRCh38
NC_000015.9:g.68499969A>G , CM000677.1:g.68499969A>G	GRCh37
NC_000015.8:g.66287023A>G	NCBI36
NG_008764.2:g.54581T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*509T>C MANE Select	ENSP00000249806.5:n.*509T>C
ENST00000562767.2:c.84-10003T>C	ENSP00000456336.1:n.84-10003T>C
ENST00000565471.6:c.*509T>C	ENSP00000457384.1:n.*509T>C
ENST00000636964.1:n.2973T>C
ENST00000637054.1:c.199-10003T>C	ENSP00000490807.1:n.199-10003T>C
ENST00000637888.1:c.199-10003T>C	ENSP00000490546.1:n.199-10003T>C
ENST00000638026.1:n.50T>C
ENST00000638076.1:c.*1048T>C	ENSP00000490373.1:n.*1048T>C
ENST00000646164.1:c.39-7950T>C
ENST00000249806.9:c.*509T>C	ENSP00000249806.5:n.*509T>C
ENST00000562767.1:c.84-10003T>C	ENSP00000456336.1:n.84-10003T>C
ENST00000565471.5:c.*509T>C	ENSP00000457384.1:n.*509T>C
NM_017882.2:c.*509T>C	NP_060352.1:n.*509T>C
NM_017882.3:c.*509T>C MANE Select	NP_060352.1:n.*509T>C