Canonical Allele Identifier: CA392971674

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500540C>T (hg19) ; chr15:g.68208202C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208202C>T , CM000677.2:g.68208202C>T	GRCh38
NC_000015.9:g.68500540C>T , CM000677.1:g.68500540C>T	GRCh37
NC_000015.8:g.66287594C>T	NCBI36
NG_008764.2:g.54010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.874G>A MANE Select	ENSP00000249806.5:p.Gly292Ser
ENST00000562767.2:c.84-10574G>A	ENSP00000456336.1:n.84-10574G>A
ENST00000565471.6:c.415G>A	ENSP00000457384.1:p.Gly139Ser
ENST00000635747.1:c.*777G>A	ENSP00000490627.1:n.*777G>A
ENST00000636212.1:c.*544G>A	ENSP00000489851.1:n.*544G>A
ENST00000636674.1:n.1976G>A
ENST00000636964.1:n.2402G>A
ENST00000637054.1:c.198+10334G>A	ENSP00000490807.1:n.198+10334G>A
ENST00000637329.1:c.843G>A
ENST00000637450.1:c.*528G>A	ENSP00000490204.1:n.*528G>A
ENST00000637494.1:c.586G>A	ENSP00000490057.1:p.Gly196Ser
ENST00000637823.1:c.699G>A
ENST00000637888.1:c.198+10334G>A	ENSP00000490546.1:n.198+10334G>A
ENST00000638076.1:c.*477G>A	ENSP00000490373.1:n.*477G>A
ENST00000638144.1:n.517G>A
ENST00000646164.1:c.39-8521G>A
ENST00000249806.9:c.874G>A	ENSP00000249806.5:p.Gly292Ser
ENST00000538696.5:c.970G>A	ENSP00000445770.1:p.Gly324Ser
ENST00000562767.1:c.84-10574G>A	ENSP00000456336.1:n.84-10574G>A
ENST00000565471.5:c.415G>A	ENSP00000457384.1:p.Gly139Ser
ENST00000566347.5:c.685G>A	ENSP00000457783.1:p.Gly229Ser
ENST00000567060.5:c.*272G>A	ENSP00000454818.1:n.*272G>A
NM_017882.2:c.874G>A	NP_060352.1:p.Gly292Ser
NM_017882.3:c.874G>A MANE Select	NP_060352.1:p.Gly292Ser