Canonical Allele Identifier: CA10284275

Gene: UPK3A

Linked Data

• ClinVar Variation Id: 341969
• ClinVar RCV Id: RCV000286600 ; RCV000914656
• dbSNP Id: rs199656309
• ExAC: 22:45681859 C / T
• gnomAD v2: 22-45681859-C-T
• gnomAD v3: 22-45285978-C-T
• gnomAD v4: 22-45285978-C-T
• MyVariant Identifiers: chr22:g.45681859C>T (hg19) ; chr22:g.45285978C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45285978C>T , CM000684.2:g.45285978C>T	GRCh38
NC_000022.10:g.45681859C>T , CM000684.1:g.45681859C>T	GRCh37
NC_000022.9:g.44060523C>T	NCBI36
NG_016203.1:g.5992C>T
NG_016203.2:g.5992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.90C>T MANE Select	ENSP00000216211.4:p.Phe30=
ENST00000216211.8:c.90C>T	ENSP00000216211.4:p.Phe30=
ENST00000396082.2:c.90C>T	ENSP00000379391.2:p.Phe30=
NM_001167574.1:c.90C>T	NP_001161046.1:p.Phe30=
NM_006953.3:c.90C>T	NP_008884.1:p.Phe30=
XM_011530364.1:c.96C>T	XP_011528666.1:p.Phe32=
XM_011530365.1:c.96C>T	XP_011528667.1:p.Phe32=
NM_006953.4:c.90C>T MANE Select	NP_008884.1:p.Phe30=
NM_001167574.2:c.90C>T	NP_001161046.1:p.Phe30=