Canonical Allele Identifier: CA16609103

Gene: UPK3A

Linked Data

• ClinVar Variation Id: 391586
• ClinVar RCV Id: RCV000436348
• dbSNP Id: rs1057524150
• MyVariant Identifiers: chr22:g.45683334T>C (hg19) ; chr22:g.45287453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45287453T>C , CM000684.2:g.45287453T>C	GRCh38
NC_000022.10:g.45683334T>C , CM000684.1:g.45683334T>C	GRCh37
NC_000022.9:g.44061998T>C	NCBI36
NG_016203.1:g.7467T>C
NG_016203.2:g.7467T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216211.9:c.488+2T>C MANE Select	ENSP00000216211.4:n.488+2T>C
ENST00000216211.8:c.488+2T>C	ENSP00000216211.4:n.488+2T>C
ENST00000396082.2:c.208+1357T>C	ENSP00000379391.2:n.208+1357T>C
NM_001167574.1:c.208+1357T>C	NP_001161046.1:n.208+1357T>C
NM_006953.3:c.488+2T>C	NP_008884.1:n.488+2T>C
XM_011530364.1:c.494+2T>C	XP_011528666.1:n.494+2T>C
XM_011530365.1:c.214+1357T>C	XP_011528667.1:n.214+1357T>C
NM_006953.4:c.488+2T>C MANE Select	NP_008884.1:n.488+2T>C
NM_001167574.2:c.208+1357T>C	NP_001161046.1:n.208+1357T>C