Canonical Allele Identifier: CA2629162030

Gene: CLN6

Linked Data

• gnomAD v4: 15-68207595-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68207595G>T , CM000677.2:g.68207595G>T	GRCh38
NC_000015.9:g.68499933G>T , CM000677.1:g.68499933G>T	GRCh37
NC_000015.8:g.66286987G>T	NCBI36
NG_008764.2:g.54617C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.*545C>A MANE Select	ENSP00000249806.5:n.*545C>A
ENST00000562767.2:c.84-9967C>A	ENSP00000456336.1:n.84-9967C>A
ENST00000636964.1:n.3009C>A
ENST00000637054.1:c.199-9967C>A	ENSP00000490807.1:n.199-9967C>A
ENST00000637888.1:c.199-9967C>A	ENSP00000490546.1:n.199-9967C>A
ENST00000638026.1:n.86C>A
ENST00000638076.1:c.*1084C>A	ENSP00000490373.1:n.*1084C>A
ENST00000646164.1:c.39-7914C>A
ENST00000249806.9:c.*545C>A	ENSP00000249806.5:n.*545C>A
ENST00000562767.1:c.84-9967C>A	ENSP00000456336.1:n.84-9967C>A
NM_017882.2:c.*545C>A	NP_060352.1:n.*545C>A
NM_017882.3:c.*545C>A MANE Select	NP_060352.1:n.*545C>A