Canonical Allele Identifier: CA392972968

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209723-G-C
• MyVariant Identifiers: chr15:g.68502061G>C (hg19) ; chr15:g.68209723G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209723G>C , CM000677.2:g.68209723G>C	GRCh38
NC_000015.9:g.68502061G>C , CM000677.1:g.68502061G>C	GRCh37
NC_000015.8:g.66289115G>C	NCBI36
NG_008764.2:g.52489C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.579C>G MANE Select	ENSP00000249806.5:p.Phe193Leu
ENST00000562767.2:c.84-12095C>G	ENSP00000456336.1:n.84-12095C>G
ENST00000563917.2:n.421C>G
ENST00000565471.6:c.120C>G	ENSP00000457384.1:p.Phe40Leu
ENST00000635747.1:c.*482C>G	ENSP00000490627.1:n.*482C>G
ENST00000636212.1:c.*249C>G	ENSP00000489851.1:n.*249C>G
ENST00000636314.1:c.275C>G	ENSP00000490295.1:p.Ser92Ter
ENST00000636674.1:n.1681C>G
ENST00000636964.1:n.2107C>G
ENST00000637054.1:c.198+8813C>G	ENSP00000490807.1:n.198+8813C>G
ENST00000637223.1:c.*293C>G	ENSP00000490010.1:n.*293C>G
ENST00000637329.1:c.548C>G
ENST00000637450.1:c.*233C>G	ENSP00000490204.1:n.*233C>G
ENST00000637494.1:c.291C>G	ENSP00000490057.1:p.Phe97Leu
ENST00000637667.1:c.480C>G	ENSP00000489843.1:p.Phe160Leu
ENST00000637823.1:c.404C>G
ENST00000637888.1:c.198+8813C>G	ENSP00000490546.1:n.198+8813C>G
ENST00000638076.1:c.*182C>G	ENSP00000490373.1:n.*182C>G
ENST00000638144.1:n.222C>G
ENST00000646164.1:c.38+8813C>G
ENST00000249806.9:c.579C>G	ENSP00000249806.5:p.Phe193Leu
ENST00000538696.5:c.675C>G	ENSP00000445770.1:p.Phe225Leu
ENST00000562767.1:c.84-12095C>G	ENSP00000456336.1:n.84-12095C>G
ENST00000563917.1:n.479C>G
ENST00000564752.1:c.605C>G	ENSP00000457822.1:p.Ser202Ter
ENST00000565471.5:c.120C>G	ENSP00000457384.1:p.Phe40Leu
ENST00000566347.5:c.390C>G	ENSP00000457783.1:p.Phe130Leu
ENST00000567060.5:c.298-3C>G	ENSP00000454818.1:n.298-3C>G
NM_017882.2:c.579C>G	NP_060352.1:p.Phe193Leu
XR_931861.1:n.801C>G
NM_017882.3:c.579C>G MANE Select	NP_060352.1:p.Phe193Leu