Canonical Allele Identifier: CA514882756

Gene: UPK3A

Linked Data

• MyVariant Identifiers: chr22:g.45689162G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293281G>C , CM000684.2:g.45293281G>C	GRCh38
NC_000022.10:g.45689162G>C , CM000684.1:g.45689162G>C	GRCh37
NC_000022.9:g.44067826G>C	NCBI36
NG_016203.1:g.13295G>C
NG_016203.2:g.13295G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.672G>C MANE Select	ENSP00000216211.4:p.Val224=
ENST00000216211.8:c.672G>C	ENSP00000216211.4:p.Val224=
ENST00000396082.2:c.309G>C	ENSP00000379391.2:p.Val103=
NM_001167574.1:c.309G>C	NP_001161046.1:p.Val103=
NM_006953.3:c.672G>C	NP_008884.1:p.Val224=
XM_011530364.1:c.678G>C	XP_011528666.1:p.Val226=
XM_011530365.1:c.315G>C	XP_011528667.1:p.Val105=
NM_006953.4:c.672G>C MANE Select	NP_008884.1:p.Val224=
NM_001167574.2:c.309G>C	NP_001161046.1:p.Val103=