Canonical Allele Identifier: CA7630540

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1155405
• ClinVar RCV Id: RCV001497721
• dbSNP Id: rs767297743
• ExAC: 15:68502107 G / A
• gnomAD v2: 15-68502107-G-A
• gnomAD v4: 15-68209769-G-A
• MyVariant Identifiers: chr15:g.68502107G>A (hg19) ; chr15:g.68209769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209769G>A , CM000677.2:g.68209769G>A	GRCh38
NC_000015.9:g.68502107G>A , CM000677.1:g.68502107G>A	GRCh37
NC_000015.8:g.66289161G>A	NCBI36
NG_008764.2:g.52443C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-10C>T MANE Select	ENSP00000249806.5:n.543-10C>T
ENST00000562767.2:c.84-12141C>T	ENSP00000456336.1:n.84-12141C>T
ENST00000563917.2:n.385-10C>T
ENST00000565471.6:c.84-10C>T	ENSP00000457384.1:n.84-10C>T
ENST00000635747.1:c.*446-10C>T	ENSP00000490627.1:n.*446-10C>T
ENST00000636212.1:c.*213-10C>T	ENSP00000489851.1:n.*213-10C>T
ENST00000636314.1:c.239-10C>T	ENSP00000490295.1:n.239-10C>T
ENST00000636674.1:n.1645-10C>T
ENST00000636964.1:n.2071-10C>T
ENST00000637054.1:c.198+8767C>T	ENSP00000490807.1:n.198+8767C>T
ENST00000637223.1:c.*257-10C>T	ENSP00000490010.1:n.*257-10C>T
ENST00000637329.1:c.512-10C>T
ENST00000637450.1:c.*197-10C>T	ENSP00000490204.1:n.*197-10C>T
ENST00000637494.1:c.255-10C>T	ENSP00000490057.1:n.255-10C>T
ENST00000637667.1:c.444-10C>T	ENSP00000489843.1:n.444-10C>T
ENST00000637823.1:c.368-10C>T
ENST00000637888.1:c.198+8767C>T	ENSP00000490546.1:n.198+8767C>T
ENST00000638076.1:c.*146-10C>T	ENSP00000490373.1:n.*146-10C>T
ENST00000638144.1:n.186-10C>T
ENST00000646164.1:c.38+8767C>T
ENST00000249806.9:c.543-10C>T	ENSP00000249806.5:n.543-10C>T
ENST00000538696.5:c.639-10C>T	ENSP00000445770.1:n.639-10C>T
ENST00000562767.1:c.84-12141C>T	ENSP00000456336.1:n.84-12141C>T
ENST00000563917.1:n.443-10C>T
ENST00000564752.1:c.569-10C>T	ENSP00000457822.1:n.569-10C>T
ENST00000565471.5:c.84-10C>T	ENSP00000457384.1:n.84-10C>T
ENST00000566347.5:c.354-10C>T	ENSP00000457783.1:n.354-10C>T
ENST00000567060.5:c.298-49C>T	ENSP00000454818.1:n.298-49C>T
NM_017882.2:c.543-10C>T	NP_060352.1:n.543-10C>T
XR_931861.1:n.765-10C>T
NM_017882.3:c.543-10C>T MANE Select	NP_060352.1:n.543-10C>T