Canonical Allele Identifier: CA10654180
Gene: UPK3A HGNC NCBI

Linked Data

ClinVar Variation Id: 341986
ClinVar RCV Id: RCV000320884
dbSNP Id: rs886057606
gnomAD v2: 22-45691538-T-C
gnomAD v3: 22-45295657-T-C
gnomAD v4: 22-45295657-T-C
MyVariant Identifiers: chr22:g.45691538T>C (hg19) chr22:g.45295657T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45295657T>C , CM000684.2:g.45295657T>C GRCh38
NC_000022.10:g.45691538T>C , CM000684.1:g.45691538T>C GRCh37
NC_000022.9:g.44070202T>C NCBI36
NG_016203.1:g.15671T>C
NG_016203.2:g.15671T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.802T>C MANE Select ENSP00000216211.4:p.Ser268Pro
ENST00000216211.8:c.802T>C ENSP00000216211.4:p.Ser268Pro
ENST00000396082.2:c.439T>C ENSP00000379391.2:p.Ser147Pro
NM_001167574.1:c.439T>C NP_001161046.1:p.Ser147Pro
NM_006953.3:c.802T>C NP_008884.1:p.Ser268Pro
XM_011530364.1:c.808T>C XP_011528666.1:p.Ser270Pro
XM_011530365.1:c.445T>C XP_011528667.1:p.Ser149Pro
NM_006953.4:c.802T>C MANE Select NP_008884.1:p.Ser268Pro
NM_001167574.2:c.439T>C NP_001161046.1:p.Ser147Pro
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