Canonical Allele Identifier: CA338448413

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11846015C>G , CM000663.2:g.11846015C>G GRCh38
NC_000001.10:g.11906072C>G , CM000663.1:g.11906072C>G GRCh37
NC_000001.9:g.11828659C>G NCBI36
NG_012926.1:g.6769G>C , LRG_751:g.6769G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400892.3:c.*1961+249C>G (CLCN6) ENSP00000496938.1:n.*1961+249C>G
ENST00000446542.5:n.781+249C>G (NPPA-AS1)
ENST00000376476.1:c.301-1G>C (NPPA) ENSP00000365659.1:n.301-1G>C
ENST00000376480.7:c.451-1G>C (NPPA) MANE Select ENSP00000365663.3:n.451-1G>C
ENST00000610706.1:c.451-1G>C (NPPA) ENSP00000483195.1:n.451-1G>C
NM_006172.3:c.451-1G>C , LRG_751t1:c.451-1G>C (NPPA) NP_006163.1:n.451-1G>C
NR_037806.1:n.1479+249C>G (NPPA-AS1)
NM_006172.4:c.451-1G>C (NPPA) MANE Select NP_006163.1:n.451-1G>C