Canonical Allele Identifier: CA416362811

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• MyVariant Identifiers: chr1:g.11907576A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847519A>T , CM000663.2:g.11847519A>T	GRCh38
NC_000001.10:g.11907576A>T , CM000663.1:g.11907576A>T	GRCh37
NC_000001.9:g.11830163A>T	NCBI36
NG_012926.1:g.5265T>A , LRG_751:g.5265T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-58A>T (CLCN6)	ENSP00000496938.1:n.*1962-58A>T
ENST00000446542.5:n.867A>T (NPPA-AS1)
ENST00000376476.1:c.-27-80T>A (NPPA)	ENSP00000365659.1:n.-27-80T>A
ENST00000376480.7:c.123+43T>A (NPPA) MANE Select	ENSP00000365663.3:n.123+43T>A
ENST00000610706.1:c.123+43T>A (NPPA)	ENSP00000483195.1:n.123+43T>A
NM_006172.3:c.123+43T>A , LRG_751t1:c.123+43T>A (NPPA)	NP_006163.1:n.123+43T>A
NR_037806.1:n.1565A>T (NPPA-AS1)
NM_006172.4:c.123+43T>A (NPPA) MANE Select	NP_006163.1:n.123+43T>A