Canonical Allele Identifier: CA411879541

Gene: UPK3A

Linked Data

• MyVariant Identifiers: chr22:g.45689185T>C (hg19) ; chr22:g.45293304T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293304T>C , CM000684.2:g.45293304T>C	GRCh38
NC_000022.10:g.45689185T>C , CM000684.1:g.45689185T>C	GRCh37
NC_000022.9:g.44067849T>C	NCBI36
NG_016203.1:g.13318T>C
NG_016203.2:g.13318T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.695T>C MANE Select	ENSP00000216211.4:p.Leu232Pro
ENST00000216211.8:c.695T>C	ENSP00000216211.4:p.Leu232Pro
ENST00000396082.2:c.332T>C	ENSP00000379391.2:p.Leu111Pro
NM_001167574.1:c.332T>C	NP_001161046.1:p.Leu111Pro
NM_006953.3:c.695T>C	NP_008884.1:p.Leu232Pro
XM_011530364.1:c.701T>C	XP_011528666.1:p.Leu234Pro
XM_011530365.1:c.338T>C	XP_011528667.1:p.Leu113Pro
NM_006953.4:c.695T>C MANE Select	NP_008884.1:p.Leu232Pro
NM_001167574.2:c.332T>C	NP_001161046.1:p.Leu111Pro