Canonical Allele Identifier: CA392973727

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504197A>G (hg19) ; chr15:g.68211859A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211859A>G , CM000677.2:g.68211859A>G	GRCh38
NC_000015.9:g.68504197A>G , CM000677.1:g.68504197A>G	GRCh37
NC_000015.8:g.66291251A>G	NCBI36
NG_008764.2:g.50353T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.302T>C MANE Select	ENSP00000249806.5:p.Ile101Thr
ENST00000562767.2:c.84-14231T>C	ENSP00000456336.1:n.84-14231T>C
ENST00000563917.2:n.144T>C
ENST00000565471.6:c.84-2100T>C	ENSP00000457384.1:n.84-2100T>C
ENST00000635747.1:c.*205T>C	ENSP00000490627.1:n.*205T>C
ENST00000636212.1:c.298-118T>C	ENSP00000489851.1:n.298-118T>C
ENST00000636314.1:c.183-541T>C	ENSP00000490295.1:n.183-541T>C
ENST00000636674.1:n.1285T>C
ENST00000636964.1:n.1474T>C
ENST00000637054.1:c.198+6677T>C	ENSP00000490807.1:n.198+6677T>C
ENST00000637223.1:c.*201-541T>C	ENSP00000490010.1:n.*201-541T>C
ENST00000637329.1:c.271T>C
ENST00000637450.1:c.187T>C	ENSP00000490204.1:p.Ser63Pro
ENST00000637494.1:c.199-541T>C	ENSP00000490057.1:n.199-541T>C
ENST00000637667.1:c.203T>C	ENSP00000489843.1:p.Ile68Thr
ENST00000637823.1:c.224-216T>C
ENST00000637888.1:c.198+6677T>C	ENSP00000490546.1:n.198+6677T>C
ENST00000638076.1:c.302T>C	ENSP00000490373.1:p.Ile101Thr
ENST00000638144.1:n.130-541T>C
ENST00000646164.1:c.38+6677T>C
ENST00000249806.9:c.302T>C	ENSP00000249806.5:p.Ile101Thr
ENST00000538696.5:c.398T>C	ENSP00000445770.1:p.Ile133Thr
ENST00000562767.1:c.84-14231T>C	ENSP00000456336.1:n.84-14231T>C
ENST00000563917.1:n.83T>C
ENST00000564752.1:c.302T>C	ENSP00000457822.1:p.Ile101Thr
ENST00000565471.5:c.84-2100T>C	ENSP00000457384.1:n.84-2100T>C
ENST00000566347.5:c.298-541T>C	ENSP00000457783.1:n.298-541T>C
ENST00000567060.5:c.298-2139T>C	ENSP00000454818.1:n.298-2139T>C
NM_017882.2:c.302T>C	NP_060352.1:p.Ile101Thr
XR_931861.1:n.405T>C
NM_017882.3:c.302T>C MANE Select	NP_060352.1:p.Ile101Thr