Canonical Allele Identifier: CA10284495

Gene: UPK3A

Linked Data

• dbSNP Id: rs773622681
• ExAC: 22:45689117 C / G
• gnomAD v2: 22-45689117-C-G
• gnomAD v4: 22-45293236-C-G
• MyVariant Identifiers: chr22:g.45689117C>G (hg19) ; chr22:g.45293236C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293236C>G , CM000684.2:g.45293236C>G	GRCh38
NC_000022.10:g.45689117C>G , CM000684.1:g.45689117C>G	GRCh37
NC_000022.9:g.44067781C>G	NCBI36
NG_016203.1:g.13250C>G
NG_016203.2:g.13250C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.627C>G MANE Select	ENSP00000216211.4:p.Ile209Met
ENST00000216211.8:c.627C>G	ENSP00000216211.4:p.Ile209Met
ENST00000396082.2:c.264C>G	ENSP00000379391.2:p.Ile88Met
NM_001167574.1:c.264C>G	NP_001161046.1:p.Ile88Met
NM_006953.3:c.627C>G	NP_008884.1:p.Ile209Met
XM_011530364.1:c.633C>G	XP_011528666.1:p.Ile211Met
XM_011530365.1:c.270C>G	XP_011528667.1:p.Ile90Met
NM_006953.4:c.627C>G MANE Select	NP_008884.1:p.Ile209Met
NM_001167574.2:c.264C>G	NP_001161046.1:p.Ile88Met