Canonical Allele Identifier: CA753582866

Gene: UPK3A

Linked Data

• dbSNP Id: rs1348266587
• gnomAD v3: 22-45293044-G-C
• gnomAD v4: 22-45293044-G-C
• MyVariant Identifiers: chr22:g.45688925G>C (hg19) ; chr22:g.45293044G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293044G>C , CM000684.2:g.45293044G>C	GRCh38
NC_000022.10:g.45688925G>C , CM000684.1:g.45688925G>C	GRCh37
NC_000022.9:g.44067589G>C	NCBI36
NG_016203.1:g.13058G>C
NG_016203.2:g.13058G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.572-137G>C MANE Select	ENSP00000216211.4:n.572-137G>C
ENST00000216211.8:c.572-137G>C	ENSP00000216211.4:n.572-137G>C
ENST00000396082.2:c.209-137G>C	ENSP00000379391.2:n.209-137G>C
NM_001167574.1:c.209-137G>C	NP_001161046.1:n.209-137G>C
NM_006953.3:c.572-137G>C	NP_008884.1:n.572-137G>C
XM_011530364.1:c.578-137G>C	XP_011528666.1:n.578-137G>C
XM_011530365.1:c.215-137G>C	XP_011528667.1:n.215-137G>C
NM_006953.4:c.572-137G>C MANE Select	NP_008884.1:n.572-137G>C
NM_001167574.2:c.209-137G>C	NP_001161046.1:n.209-137G>C