Canonical Allele Identifier: CA392972819

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209658-G-A
• MyVariant Identifiers: chr15:g.68501996G>A (hg19) ; chr15:g.68209658G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209658G>A , CM000677.2:g.68209658G>A	GRCh38
NC_000015.9:g.68501996G>A , CM000677.1:g.68501996G>A	GRCh37
NC_000015.8:g.66289050G>A	NCBI36
NG_008764.2:g.52554C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.644C>T MANE Select	ENSP00000249806.5:p.Ala215Val
ENST00000562767.2:c.84-12030C>T	ENSP00000456336.1:n.84-12030C>T
ENST00000563917.2:n.486C>T
ENST00000565471.6:c.185C>T	ENSP00000457384.1:p.Ala62Val
ENST00000635747.1:c.*547C>T	ENSP00000490627.1:n.*547C>T
ENST00000636212.1:c.*314C>T	ENSP00000489851.1:n.*314C>T
ENST00000636674.1:n.1746C>T
ENST00000636964.1:n.2172C>T
ENST00000637054.1:c.198+8878C>T	ENSP00000490807.1:n.198+8878C>T
ENST00000637329.1:c.613C>T
ENST00000637450.1:c.*298C>T	ENSP00000490204.1:n.*298C>T
ENST00000637494.1:c.356C>T	ENSP00000490057.1:p.Ala119Val
ENST00000637667.1:c.545C>T	ENSP00000489843.1:p.Ala182Val
ENST00000637823.1:c.469C>T
ENST00000637888.1:c.198+8878C>T	ENSP00000490546.1:n.198+8878C>T
ENST00000638076.1:c.*247C>T	ENSP00000490373.1:n.*247C>T
ENST00000638144.1:n.287C>T
ENST00000646164.1:c.38+8878C>T
ENST00000249806.9:c.644C>T	ENSP00000249806.5:p.Ala215Val
ENST00000538696.5:c.740C>T	ENSP00000445770.1:p.Ala247Val
ENST00000562767.1:c.84-12030C>T	ENSP00000456336.1:n.84-12030C>T
ENST00000563917.1:n.544C>T
ENST00000564752.1:c.*28C>T	ENSP00000457822.1:n.*28C>T
ENST00000565471.5:c.185C>T	ENSP00000457384.1:p.Ala62Val
ENST00000566347.5:c.455C>T	ENSP00000457783.1:p.Ala152Val
ENST00000567060.5:c.*42C>T	ENSP00000454818.1:n.*42C>T
NM_017882.2:c.644C>T	NP_060352.1:p.Ala215Val
XR_931861.1:n.866C>T
NM_017882.3:c.644C>T MANE Select	NP_060352.1:p.Ala215Val