Canonical Allele Identifier: CA411879486

Gene: UPK3A

Linked Data

• dbSNP Id: rs1569106652
• MyVariant Identifiers: chr22:g.45689173G>C (hg19) ; chr22:g.45293292G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293292G>C , CM000684.2:g.45293292G>C	GRCh38
NC_000022.10:g.45689173G>C , CM000684.1:g.45689173G>C	GRCh37
NC_000022.9:g.44067837G>C	NCBI36
NG_016203.1:g.13306G>C
NG_016203.2:g.13306G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.683G>C MANE Select	ENSP00000216211.4:p.Gly228Ala
ENST00000216211.8:c.683G>C	ENSP00000216211.4:p.Gly228Ala
ENST00000396082.2:c.320G>C	ENSP00000379391.2:p.Gly107Ala
NM_001167574.1:c.320G>C	NP_001161046.1:p.Gly107Ala
NM_006953.3:c.683G>C	NP_008884.1:p.Gly228Ala
XM_011530364.1:c.689G>C	XP_011528666.1:p.Gly230Ala
XM_011530365.1:c.326G>C	XP_011528667.1:p.Gly109Ala
NM_006953.4:c.683G>C MANE Select	NP_008884.1:p.Gly228Ala
NM_001167574.2:c.320G>C	NP_001161046.1:p.Gly107Ala