Canonical Allele Identifier: CA514882669

Gene: UPK3A

Linked Data

• gnomAD v4: 22-45293188-A-C
• MyVariant Identifiers: chr22:g.45689069A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293188A>C , CM000684.2:g.45293188A>C	GRCh38
NC_000022.10:g.45689069A>C , CM000684.1:g.45689069A>C	GRCh37
NC_000022.9:g.44067733A>C	NCBI36
NG_016203.1:g.13202A>C
NG_016203.2:g.13202A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.579A>C MANE Select	ENSP00000216211.4:p.Pro193=
ENST00000216211.8:c.579A>C	ENSP00000216211.4:p.Pro193=
ENST00000396082.2:c.216A>C	ENSP00000379391.2:p.Pro72=
NM_001167574.1:c.216A>C	NP_001161046.1:p.Pro72=
NM_006953.3:c.579A>C	NP_008884.1:p.Pro193=
XM_011530364.1:c.585A>C	XP_011528666.1:p.Pro195=
XM_011530365.1:c.222A>C	XP_011528667.1:p.Pro74=
NM_006953.4:c.579A>C MANE Select	NP_008884.1:p.Pro193=
NM_001167574.2:c.216A>C	NP_001161046.1:p.Pro72=