Canonical Allele Identifier: CA10284510
Gene: UPK3A HGNC NCBI

Linked Data

ClinVar Variation Id: 341984
ClinVar RCV Id: RCV000379011
dbSNP Id: rs112177270
ExAC: 22:45689202 C / A
gnomAD v2: 22-45689202-C-A
gnomAD v3: 22-45293321-C-A
gnomAD v4: 22-45293321-C-A
MyVariant Identifiers: chr22:g.45689202C>A (hg19) chr22:g.45293321C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293321C>A , CM000684.2:g.45293321C>A GRCh38
NC_000022.10:g.45689202C>A , CM000684.1:g.45689202C>A GRCh37
NC_000022.9:g.44067866C>A NCBI36
NG_016203.1:g.13335C>A
NG_016203.2:g.13335C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216211.9:c.704+8C>A MANE Select ENSP00000216211.4:n.704+8C>A
ENST00000216211.8:c.704+8C>A ENSP00000216211.4:n.704+8C>A
ENST00000396082.2:c.341+8C>A ENSP00000379391.2:n.341+8C>A
NM_001167574.1:c.341+8C>A NP_001161046.1:n.341+8C>A
NM_006953.3:c.704+8C>A NP_008884.1:n.704+8C>A
XM_011530364.1:c.710+8C>A XP_011528666.1:n.710+8C>A
XM_011530365.1:c.347+8C>A XP_011528667.1:n.347+8C>A
NM_006953.4:c.704+8C>A MANE Select NP_008884.1:n.704+8C>A
NM_001167574.2:c.341+8C>A NP_001161046.1:n.341+8C>A
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