Canonical Allele Identifier: CA10284460

Gene: UPK3A

Linked Data

• dbSNP Id: rs751491500
• ExAC: 22:45689018 G / A
• gnomAD v2: 22-45689018-G-A
• gnomAD v3: 22-45293137-G-A
• gnomAD v4: 22-45293137-G-A
• MyVariant Identifiers: chr22:g.45689018G>A (hg19) ; chr22:g.45293137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293137G>A , CM000684.2:g.45293137G>A	GRCh38
NC_000022.10:g.45689018G>A , CM000684.1:g.45689018G>A	GRCh37
NC_000022.9:g.44067682G>A	NCBI36
NG_016203.1:g.13151G>A
NG_016203.2:g.13151G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216211.9:c.572-44G>A MANE Select	ENSP00000216211.4:n.572-44G>A
ENST00000216211.8:c.572-44G>A	ENSP00000216211.4:n.572-44G>A
ENST00000396082.2:c.209-44G>A	ENSP00000379391.2:n.209-44G>A
NM_001167574.1:c.209-44G>A	NP_001161046.1:n.209-44G>A
NM_006953.3:c.572-44G>A	NP_008884.1:n.572-44G>A
XM_011530364.1:c.578-44G>A	XP_011528666.1:n.578-44G>A
XM_011530365.1:c.215-44G>A	XP_011528667.1:n.215-44G>A
NM_006953.4:c.572-44G>A MANE Select	NP_008884.1:n.572-44G>A
NM_001167574.2:c.209-44G>A	NP_001161046.1:n.209-44G>A