Canonical Allele Identifier: CA392972903

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502036C>A (hg19) ; chr15:g.68209698C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209698C>A , CM000677.2:g.68209698C>A	GRCh38
NC_000015.9:g.68502036C>A , CM000677.1:g.68502036C>A	GRCh37
NC_000015.8:g.66289090C>A	NCBI36
NG_008764.2:g.52514G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.604G>T MANE Select	ENSP00000249806.5:p.Ala202Ser
ENST00000562767.2:c.84-12070G>T	ENSP00000456336.1:n.84-12070G>T
ENST00000563917.2:n.446G>T
ENST00000565471.6:c.145G>T	ENSP00000457384.1:p.Ala49Ser
ENST00000635747.1:c.*507G>T	ENSP00000490627.1:n.*507G>T
ENST00000636212.1:c.*274G>T	ENSP00000489851.1:n.*274G>T
ENST00000636314.1:c.300G>T	ENSP00000490295.1:p.Lys100Asn
ENST00000636674.1:n.1706G>T
ENST00000636964.1:n.2132G>T
ENST00000637054.1:c.198+8838G>T	ENSP00000490807.1:n.198+8838G>T
ENST00000637329.1:c.573G>T
ENST00000637450.1:c.*258G>T	ENSP00000490204.1:n.*258G>T
ENST00000637494.1:c.316G>T	ENSP00000490057.1:p.Ala106Ser
ENST00000637667.1:c.505G>T	ENSP00000489843.1:p.Ala169Ser
ENST00000637823.1:c.429G>T
ENST00000637888.1:c.198+8838G>T	ENSP00000490546.1:n.198+8838G>T
ENST00000638076.1:c.*207G>T	ENSP00000490373.1:n.*207G>T
ENST00000638144.1:n.247G>T
ENST00000646164.1:c.38+8838G>T
ENST00000249806.9:c.604G>T	ENSP00000249806.5:p.Ala202Ser
ENST00000538696.5:c.700G>T	ENSP00000445770.1:p.Ala234Ser
ENST00000562767.1:c.84-12070G>T	ENSP00000456336.1:n.84-12070G>T
ENST00000563917.1:n.504G>T
ENST00000564752.1:c.630G>T	ENSP00000457822.1:p.Lys210Asn
ENST00000565471.5:c.145G>T	ENSP00000457384.1:p.Ala49Ser
ENST00000566347.5:c.415G>T	ENSP00000457783.1:p.Ala139Ser
ENST00000567060.5:c.*2G>T	ENSP00000454818.1:n.*2G>T
NM_017882.2:c.604G>T	NP_060352.1:p.Ala202Ser
XR_931861.1:n.826G>T
NM_017882.3:c.604G>T MANE Select	NP_060352.1:p.Ala202Ser