Canonical Allele Identifier: CA10284250
Gene: UPK3A HGNC NCBI

Linked Data

ClinVar Variation Id: 341967
ClinVar RCV Id: RCV000326866
dbSNP Id: rs768663033
ExAC: 22:45680869 C / G
gnomAD v2: 22-45680869-C-G
gnomAD v3: 22-45284988-C-G
gnomAD v4: 22-45284988-C-G
MyVariant Identifiers: chr22:g.45680869C>G (hg19) chr22:g.45680869_45680870delinsGG (hg19) chr22:g.45284988C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45284988C>G , CM000684.2:g.45284988C>G GRCh38
NC_000022.10:g.45680869C>G , CM000684.1:g.45680869C>G GRCh37
NC_000022.9:g.44059533C>G NCBI36
NG_016203.1:g.5002C>G
NG_016203.2:g.5002C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.-26C>G MANE Select ENSP00000216211.4:n.-26C>G
ENST00000216211.8:c.-26C>G ENSP00000216211.4:n.-26C>G
NM_001167574.1:c.-26C>G NP_001161046.1:n.-26C>G
NM_006953.3:c.-26C>G NP_008884.1:n.-26C>G
NM_006953.4:c.-26C>G MANE Select NP_008884.1:n.-26C>G
NM_001167574.2:c.-26C>G NP_001161046.1:n.-26C>G
Search 100 bp 5'
Search 100 bp 3'