Canonical Allele Identifier: CA392971938

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500623G>T (hg19) ; chr15:g.68208285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208285G>T , CM000677.2:g.68208285G>T	GRCh38
NC_000015.9:g.68500623G>T , CM000677.1:g.68500623G>T	GRCh37
NC_000015.8:g.66287677G>T	NCBI36
NG_008764.2:g.53927C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.791C>A MANE Select	ENSP00000249806.5:p.Ser264Tyr
ENST00000562767.2:c.84-10657C>A	ENSP00000456336.1:n.84-10657C>A
ENST00000565471.6:c.332C>A	ENSP00000457384.1:p.Ser111Tyr
ENST00000635747.1:c.*694C>A	ENSP00000490627.1:n.*694C>A
ENST00000636212.1:c.*461C>A	ENSP00000489851.1:n.*461C>A
ENST00000636674.1:n.1893C>A
ENST00000636964.1:n.2319C>A
ENST00000637054.1:c.198+10251C>A	ENSP00000490807.1:n.198+10251C>A
ENST00000637329.1:c.760C>A
ENST00000637450.1:c.*445C>A	ENSP00000490204.1:n.*445C>A
ENST00000637494.1:c.503C>A	ENSP00000490057.1:p.Ser168Tyr
ENST00000637667.1:c.692C>A	ENSP00000489843.1:p.Ser231Tyr
ENST00000637823.1:c.616C>A
ENST00000637888.1:c.198+10251C>A	ENSP00000490546.1:n.198+10251C>A
ENST00000638076.1:c.*394C>A	ENSP00000490373.1:n.*394C>A
ENST00000638144.1:n.434C>A
ENST00000646164.1:c.39-8604C>A
ENST00000249806.9:c.791C>A	ENSP00000249806.5:p.Ser264Tyr
ENST00000538696.5:c.887C>A	ENSP00000445770.1:p.Ser296Tyr
ENST00000562767.1:c.84-10657C>A	ENSP00000456336.1:n.84-10657C>A
ENST00000565471.5:c.332C>A	ENSP00000457384.1:p.Ser111Tyr
ENST00000566347.5:c.602C>A	ENSP00000457783.1:p.Ser201Tyr
ENST00000567060.5:c.*189C>A	ENSP00000454818.1:n.*189C>A
NM_017882.2:c.791C>A	NP_060352.1:p.Ser264Tyr
NM_017882.3:c.791C>A MANE Select	NP_060352.1:p.Ser264Tyr