Canonical Allele Identifier: CA753583269

Gene: UPK3A

Linked Data

• dbSNP Id: rs1246624341
• gnomAD v3: 22-45293496-G-A
• gnomAD v4: 22-45293496-G-A
• MyVariant Identifiers: chr22:g.45689377G>A (hg19) ; chr22:g.45293496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293496G>A , CM000684.2:g.45293496G>A	GRCh38
NC_000022.10:g.45689377G>A , CM000684.1:g.45689377G>A	GRCh37
NC_000022.9:g.44068041G>A	NCBI36
NG_016203.1:g.13510G>A
NG_016203.2:g.13510G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.704+183G>A MANE Select	ENSP00000216211.4:n.704+183G>A
ENST00000216211.8:c.704+183G>A	ENSP00000216211.4:n.704+183G>A
ENST00000396082.2:c.341+183G>A	ENSP00000379391.2:n.341+183G>A
NM_001167574.1:c.341+183G>A	NP_001161046.1:n.341+183G>A
NM_006953.3:c.704+183G>A	NP_008884.1:n.704+183G>A
XM_011530364.1:c.710+183G>A	XP_011528666.1:n.710+183G>A
XM_011530365.1:c.347+183G>A	XP_011528667.1:n.347+183G>A
NM_006953.4:c.704+183G>A MANE Select	NP_008884.1:n.704+183G>A
NM_001167574.2:c.341+183G>A	NP_001161046.1:n.341+183G>A