Canonical Allele Identifier: CA392972312

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500727C>G (hg19) ; chr15:g.68208389C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208389C>G , CM000677.2:g.68208389C>G	GRCh38
NC_000015.9:g.68500727C>G , CM000677.1:g.68500727C>G	GRCh37
NC_000015.8:g.66287781C>G	NCBI36
NG_008764.2:g.53823G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.687G>C MANE Select	ENSP00000249806.5:p.Gln229His
ENST00000562767.2:c.84-10761G>C	ENSP00000456336.1:n.84-10761G>C
ENST00000563917.2:n.529G>C
ENST00000565471.6:c.228G>C	ENSP00000457384.1:p.Gln76His
ENST00000635747.1:c.*590G>C	ENSP00000490627.1:n.*590G>C
ENST00000636212.1:c.*357G>C	ENSP00000489851.1:n.*357G>C
ENST00000636674.1:n.1789G>C
ENST00000636964.1:n.2215G>C
ENST00000637054.1:c.198+10147G>C	ENSP00000490807.1:n.198+10147G>C
ENST00000637329.1:c.656G>C
ENST00000637450.1:c.*341G>C	ENSP00000490204.1:n.*341G>C
ENST00000637494.1:c.399G>C	ENSP00000490057.1:p.Gln133His
ENST00000637667.1:c.588G>C	ENSP00000489843.1:p.Gln196His
ENST00000637823.1:c.512G>C
ENST00000637888.1:c.198+10147G>C	ENSP00000490546.1:n.198+10147G>C
ENST00000638076.1:c.*290G>C	ENSP00000490373.1:n.*290G>C
ENST00000638144.1:n.330G>C
ENST00000646164.1:c.39-8708G>C
ENST00000249806.9:c.687G>C	ENSP00000249806.5:p.Gln229His
ENST00000538696.5:c.783G>C	ENSP00000445770.1:p.Gln261His
ENST00000562767.1:c.84-10761G>C	ENSP00000456336.1:n.84-10761G>C
ENST00000564752.1:c.*71G>C	ENSP00000457822.1:n.*71G>C
ENST00000565471.5:c.228G>C	ENSP00000457384.1:p.Gln76His
ENST00000566347.5:c.498G>C	ENSP00000457783.1:p.Gln166His
ENST00000567060.5:c.*85G>C	ENSP00000454818.1:n.*85G>C
NM_017882.2:c.687G>C	NP_060352.1:p.Gln229His
NM_017882.3:c.687G>C MANE Select	NP_060352.1:p.Gln229His