Canonical Allele Identifier: CA313976

Gene: CLN6

Linked Data

• ClinVar Variation Id: 205174
• ClinVar RCV Id: RCV000187103 ; RCV000665630 ; RCV000803026
• dbSNP Id: rs767164948
• ExAC: 15:68500686 G / A
• gnomAD v2: 15-68500686-G-A
• gnomAD v3: 15-68208348-G-A
• gnomAD v4: 15-68208348-G-A
• MyVariant Identifiers: chr15:g.68500686G>A (hg19) ; chr15:g.68208348G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208348G>A , CM000677.2:g.68208348G>A	GRCh38
NC_000015.9:g.68500686G>A , CM000677.1:g.68500686G>A	GRCh37
NC_000015.8:g.66287740G>A	NCBI36
NG_008764.2:g.53864C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.728C>T MANE Select	ENSP00000249806.5:p.Ala243Val
ENST00000562767.2:c.84-10720C>T	ENSP00000456336.1:n.84-10720C>T
ENST00000565471.6:c.269C>T	ENSP00000457384.1:p.Ala90Val
ENST00000635747.1:c.*631C>T	ENSP00000490627.1:n.*631C>T
ENST00000636212.1:c.*398C>T	ENSP00000489851.1:n.*398C>T
ENST00000636674.1:n.1830C>T
ENST00000636964.1:n.2256C>T
ENST00000637054.1:c.198+10188C>T	ENSP00000490807.1:n.198+10188C>T
ENST00000637329.1:c.697C>T
ENST00000637450.1:c.*382C>T	ENSP00000490204.1:n.*382C>T
ENST00000637494.1:c.440C>T	ENSP00000490057.1:p.Ala147Val
ENST00000637667.1:c.629C>T	ENSP00000489843.1:p.Ala210Val
ENST00000637823.1:c.553C>T
ENST00000637888.1:c.198+10188C>T	ENSP00000490546.1:n.198+10188C>T
ENST00000638076.1:c.*331C>T	ENSP00000490373.1:n.*331C>T
ENST00000638144.1:n.371C>T
ENST00000646164.1:c.39-8667C>T
ENST00000249806.9:c.728C>T	ENSP00000249806.5:p.Ala243Val
ENST00000538696.5:c.824C>T	ENSP00000445770.1:p.Ala275Val
ENST00000562767.1:c.84-10720C>T	ENSP00000456336.1:n.84-10720C>T
ENST00000564752.1:c.*112C>T	ENSP00000457822.1:n.*112C>T
ENST00000565471.5:c.269C>T	ENSP00000457384.1:p.Ala90Val
ENST00000566347.5:c.539C>T	ENSP00000457783.1:p.Ala180Val
ENST00000567060.5:c.*126C>T	ENSP00000454818.1:n.*126C>T
NM_017882.2:c.728C>T	NP_060352.1:p.Ala243Val
NM_017882.3:c.728C>T MANE Select	NP_060352.1:p.Ala243Val