Canonical Allele Identifier: CA10284498

Gene: UPK3A

Linked Data

• dbSNP Id: rs756038584
• ExAC: 22:45689124 A / G
• gnomAD v2: 22-45689124-A-G
• gnomAD v4: 22-45293243-A-G
• MyVariant Identifiers: chr22:g.45689124A>G (hg19) ; chr22:g.45293243A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293243A>G , CM000684.2:g.45293243A>G	GRCh38
NC_000022.10:g.45689124A>G , CM000684.1:g.45689124A>G	GRCh37
NC_000022.9:g.44067788A>G	NCBI36
NG_016203.1:g.13257A>G
NG_016203.2:g.13257A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.634A>G MANE Select	ENSP00000216211.4:p.Thr212Ala
ENST00000216211.8:c.634A>G	ENSP00000216211.4:p.Thr212Ala
ENST00000396082.2:c.271A>G	ENSP00000379391.2:p.Thr91Ala
NM_001167574.1:c.271A>G	NP_001161046.1:p.Thr91Ala
NM_006953.3:c.634A>G	NP_008884.1:p.Thr212Ala
XM_011530364.1:c.640A>G	XP_011528666.1:p.Thr214Ala
XM_011530365.1:c.277A>G	XP_011528667.1:p.Thr93Ala
NM_006953.4:c.634A>G MANE Select	NP_008884.1:p.Thr212Ala
NM_001167574.2:c.271A>G	NP_001161046.1:p.Thr91Ala