Canonical Allele Identifier: CA405815846
Gene: CLC HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.40225647C>T (hg19) chr19:g.39735007C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.39735007C>T , CM000681.2:g.39735007C>T GRCh38
NC_000019.9:g.40225647C>T , CM000681.1:g.40225647C>T GRCh37
NC_000019.8:g.44917487C>T NCBI36
NG_046978.1:g.8023G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000221804.5:c.82G>A MANE Select ENSP00000221804.3:p.Ala28Thr
ENST00000221804.4:c.82G>A ENSP00000221804.3:p.Ala28Thr
NM_001828.5:c.82G>A NP_001819.2:p.Ala28Thr
NM_001828.6:c.82G>A MANE Select NP_001819.2:p.Ala28Thr
Search 100 bp 5'
Search 100 bp 3'