Canonical Allele Identifier: CA392973049

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209752-G-A
• MyVariant Identifiers: chr15:g.68502090G>A (hg19) ; chr15:g.68209752G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209752G>A , CM000677.2:g.68209752G>A	GRCh38
NC_000015.9:g.68502090G>A , CM000677.1:g.68502090G>A	GRCh37
NC_000015.8:g.66289144G>A	NCBI36
NG_008764.2:g.52460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.550C>T MANE Select	ENSP00000249806.5:p.Pro184Ser
ENST00000562767.2:c.84-12124C>T	ENSP00000456336.1:n.84-12124C>T
ENST00000563917.2:n.392C>T
ENST00000565471.6:c.91C>T	ENSP00000457384.1:p.Pro31Ser
ENST00000635747.1:c.*453C>T	ENSP00000490627.1:n.*453C>T
ENST00000636212.1:c.*220C>T	ENSP00000489851.1:n.*220C>T
ENST00000636314.1:c.246C>T	ENSP00000490295.1:p.Ser82=
ENST00000636674.1:n.1652C>T
ENST00000636964.1:n.2078C>T
ENST00000637054.1:c.198+8784C>T	ENSP00000490807.1:n.198+8784C>T
ENST00000637223.1:c.*264C>T	ENSP00000490010.1:n.*264C>T
ENST00000637329.1:c.519C>T
ENST00000637450.1:c.*204C>T	ENSP00000490204.1:n.*204C>T
ENST00000637494.1:c.262C>T	ENSP00000490057.1:p.Pro88Ser
ENST00000637667.1:c.451C>T	ENSP00000489843.1:p.Pro151Ser
ENST00000637823.1:c.375C>T
ENST00000637888.1:c.198+8784C>T	ENSP00000490546.1:n.198+8784C>T
ENST00000638076.1:c.*153C>T	ENSP00000490373.1:n.*153C>T
ENST00000638144.1:n.193C>T
ENST00000646164.1:c.38+8784C>T
ENST00000249806.9:c.550C>T	ENSP00000249806.5:p.Pro184Ser
ENST00000538696.5:c.646C>T	ENSP00000445770.1:p.Pro216Ser
ENST00000562767.1:c.84-12124C>T	ENSP00000456336.1:n.84-12124C>T
ENST00000563917.1:n.450C>T
ENST00000564752.1:c.576C>T	ENSP00000457822.1:p.Ser192=
ENST00000565471.5:c.91C>T	ENSP00000457384.1:p.Pro31Ser
ENST00000566347.5:c.361C>T	ENSP00000457783.1:p.Pro121Ser
ENST00000567060.5:c.298-32C>T	ENSP00000454818.1:n.298-32C>T
NM_017882.2:c.550C>T	NP_060352.1:p.Pro184Ser
XR_931861.1:n.772C>T
NM_017882.3:c.550C>T MANE Select	NP_060352.1:p.Pro184Ser