Canonical Allele Identifier: CA411879489

Gene: UPK3A

Linked Data

• dbSNP Id: rs778534272
• MyVariant Identifiers: chr22:g.45689175G>C (hg19) ; chr22:g.45293294G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293294G>C , CM000684.2:g.45293294G>C	GRCh38
NC_000022.10:g.45689175G>C , CM000684.1:g.45689175G>C	GRCh37
NC_000022.9:g.44067839G>C	NCBI36
NG_016203.1:g.13308G>C
NG_016203.2:g.13308G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.685G>C MANE Select	ENSP00000216211.4:p.Ala229Pro
ENST00000216211.8:c.685G>C	ENSP00000216211.4:p.Ala229Pro
ENST00000396082.2:c.322G>C	ENSP00000379391.2:p.Ala108Pro
NM_001167574.1:c.322G>C	NP_001161046.1:p.Ala108Pro
NM_006953.3:c.685G>C	NP_008884.1:p.Ala229Pro
XM_011530364.1:c.691G>C	XP_011528666.1:p.Ala231Pro
XM_011530365.1:c.328G>C	XP_011528667.1:p.Ala110Pro
NM_006953.4:c.685G>C MANE Select	NP_008884.1:p.Ala229Pro
NM_001167574.2:c.322G>C	NP_001161046.1:p.Ala108Pro