Canonical Allele Identifier: CA597106
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs561950437
ExAC: 1:11907633 G / A
gnomAD v2: 1-11907633-G-A
gnomAD v3: 1-11847576-G-A
gnomAD v4: 1-11847576-G-A
MyVariant Identifiers: chr1:g.11907633G>A (hg19) chr1:g.11847576G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847576G>A , CM000663.2:g.11847576G>A GRCh38
NC_000001.10:g.11907633G>A , CM000663.1:g.11907633G>A GRCh37
NC_000001.9:g.11830220G>A NCBI36
NG_012926.1:g.5208C>T , LRG_751:g.5208C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-1G>A (CLCN6) ENSP00000496938.1:n.*1962-1G>A
ENST00000446542.5:n.924G>A (NPPA-AS1)
ENST00000376476.1:c.-27-137C>T (NPPA) ENSP00000365659.1:n.-27-137C>T
ENST00000376480.7:c.109C>T (NPPA) MANE Select ENSP00000365663.3:p.Leu37=
ENST00000610706.1:c.109C>T (NPPA) ENSP00000483195.1:p.Leu37=
NM_006172.3:c.109C>T , LRG_751t1:c.109C>T (NPPA) NP_006163.1:p.Leu37=
NR_037806.1:n.1622G>A (NPPA-AS1)
NM_006172.4:c.109C>T (NPPA) MANE Select NP_006163.1:p.Leu37=
Search 100 bp 5'
Search 100 bp 3'