Canonical Allele Identifier: CA596978

Linked Data

dbSNP Id: rs751006044
gnomAD v2: 1-11906054-T-G
gnomAD v3: 1-11845997-T-G
gnomAD v4: 1-11845997-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845997T>G , CM000663.2:g.11845997T>G GRCh38
NC_000001.10:g.11906054T>G , CM000663.1:g.11906054T>G GRCh37
NC_000001.9:g.11828641T>G NCBI36
NG_012926.1:g.6787A>C , LRG_751:g.6787A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+231T>G (CLCN6) ENSP00000496938.1:n.*1961+231T>G
ENST00000446542.5:n.781+231T>G (NPPA-AS1)
ENST00000376476.1:c.*12A>C (NPPA) ENSP00000365659.1:n.*12A>C
ENST00000376480.7:c.*12A>C (NPPA) MANE Select ENSP00000365663.3:n.*12A>C
ENST00000610706.1:c.*6A>C (NPPA) ENSP00000483195.1:n.*6A>C
NM_006172.3:c.*12A>C , LRG_751t1:c.*12A>C (NPPA) NP_006163.1:n.*12A>C
NR_037806.1:n.1479+231T>G (NPPA-AS1)
NM_006172.4:c.*12A>C (NPPA) MANE Select NP_006163.1:n.*12A>C