Canonical Allele Identifier: CA411879400

Gene: UPK3A

Linked Data

• MyVariant Identifiers: chr22:g.45689145C>G (hg19) ; chr22:g.45293264C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293264C>G , CM000684.2:g.45293264C>G	GRCh38
NC_000022.10:g.45689145C>G , CM000684.1:g.45689145C>G	GRCh37
NC_000022.9:g.44067809C>G	NCBI36
NG_016203.1:g.13278C>G
NG_016203.2:g.13278C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.655C>G MANE Select	ENSP00000216211.4:p.Pro219Ala
ENST00000216211.8:c.655C>G	ENSP00000216211.4:p.Pro219Ala
ENST00000396082.2:c.292C>G	ENSP00000379391.2:p.Pro98Ala
NM_001167574.1:c.292C>G	NP_001161046.1:p.Pro98Ala
NM_006953.3:c.655C>G	NP_008884.1:p.Pro219Ala
XM_011530364.1:c.661C>G	XP_011528666.1:p.Pro221Ala
XM_011530365.1:c.298C>G	XP_011528667.1:p.Pro100Ala
NM_006953.4:c.655C>G MANE Select	NP_008884.1:p.Pro219Ala
NM_001167574.2:c.292C>G	NP_001161046.1:p.Pro98Ala