Canonical Allele Identifier: CA10636467

Gene: CLN6

Linked Data

• ClinVar Variation Id: 316967
• ClinVar RCV Id: RCV000340027
• dbSNP Id: rs6494720
• gnomAD v2: 15-68499463-A-G
• gnomAD v3: 15-68207125-A-G
• gnomAD v4: 15-68207125-A-G
• MyVariant Identifiers: chr15:g.68499463A>G (hg19) ; chr15:g.68207125A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207125A>G , CM000677.2:g.68207125A>G	GRCh38
NC_000015.9:g.68499463A>G , CM000677.1:g.68499463A>G	GRCh37
NC_000015.8:g.66286517A>G	NCBI36
NG_008764.2:g.55087T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*1015T>C MANE Select	ENSP00000249806.5:n.*1015T>C
ENST00000562767.2:c.84-9497T>C	ENSP00000456336.1:n.84-9497T>C
ENST00000637054.1:c.199-9497T>C	ENSP00000490807.1:n.199-9497T>C
ENST00000637888.1:c.199-9497T>C	ENSP00000490546.1:n.199-9497T>C
ENST00000638026.1:n.556T>C
ENST00000638076.1:c.*1554T>C	ENSP00000490373.1:n.*1554T>C
ENST00000646164.1:c.39-7444T>C
ENST00000249806.9:c.*1015T>C	ENSP00000249806.5:n.*1015T>C
ENST00000562767.1:c.84-9497T>C	ENSP00000456336.1:n.84-9497T>C
NM_017882.2:c.*1015T>C	NP_060352.1:n.*1015T>C
NM_017882.3:c.*1015T>C MANE Select	NP_060352.1:n.*1015T>C