Canonical Allele Identifier: CA392972118

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208348-G-T
• MyVariant Identifiers: chr15:g.68500686G>T (hg19) ; chr15:g.68208348G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.728C>A MANE Select	ENSP00000249806.5:p.Ala243Asp
ENST00000562767.2:c.84-10720C>A	ENSP00000456336.1:n.84-10720C>A
ENST00000565471.6:c.269C>A	ENSP00000457384.1:p.Ala90Asp
ENST00000635747.1:c.*631C>A	ENSP00000490627.1:n.*631C>A
ENST00000636212.1:c.*398C>A	ENSP00000489851.1:n.*398C>A
ENST00000636674.1:n.1830C>A
ENST00000636964.1:n.2256C>A
ENST00000637054.1:c.198+10188C>A	ENSP00000490807.1:n.198+10188C>A
ENST00000637329.1:c.697C>A
ENST00000637450.1:c.*382C>A	ENSP00000490204.1:n.*382C>A
ENST00000637494.1:c.440C>A	ENSP00000490057.1:p.Ala147Asp
ENST00000637667.1:c.629C>A	ENSP00000489843.1:p.Ala210Asp
ENST00000637823.1:c.553C>A
ENST00000637888.1:c.198+10188C>A	ENSP00000490546.1:n.198+10188C>A
ENST00000638076.1:c.*331C>A	ENSP00000490373.1:n.*331C>A
ENST00000638144.1:n.371C>A
ENST00000646164.1:c.39-8667C>A
ENST00000249806.9:c.728C>A	ENSP00000249806.5:p.Ala243Asp
ENST00000538696.5:c.824C>A	ENSP00000445770.1:p.Ala275Asp
ENST00000562767.1:c.84-10720C>A	ENSP00000456336.1:n.84-10720C>A
ENST00000564752.1:c.*112C>A	ENSP00000457822.1:n.*112C>A
ENST00000565471.5:c.269C>A	ENSP00000457384.1:p.Ala90Asp
ENST00000566347.5:c.539C>A	ENSP00000457783.1:p.Ala180Asp
ENST00000567060.5:c.*126C>A	ENSP00000454818.1:n.*126C>A
NM_017882.2:c.728C>A	NP_060352.1:p.Ala243Asp
NM_017882.3:c.728C>A MANE Select	NP_060352.1:p.Ala243Asp