Canonical Allele Identifier: CA411879461

Gene: UPK3A

Linked Data

• dbSNP Id: rs1360838885
• gnomAD v2: 22-45689161-T-C
• gnomAD v4: 22-45293280-T-C
• MyVariant Identifiers: chr22:g.45689161T>C (hg19) ; chr22:g.45689161_45689162delinsCG (hg19) ; chr22:g.45293280T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293280T>C , CM000684.2:g.45293280T>C	GRCh38
NC_000022.10:g.45689161T>C , CM000684.1:g.45689161T>C	GRCh37
NC_000022.9:g.44067825T>C	NCBI36
NG_016203.1:g.13294T>C
NG_016203.2:g.13294T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.671T>C MANE Select	ENSP00000216211.4:p.Val224Ala
ENST00000216211.8:c.671T>C	ENSP00000216211.4:p.Val224Ala
ENST00000396082.2:c.308T>C	ENSP00000379391.2:p.Val103Ala
NM_001167574.1:c.308T>C	NP_001161046.1:p.Val103Ala
NM_006953.3:c.671T>C	NP_008884.1:p.Val224Ala
XM_011530364.1:c.677T>C	XP_011528666.1:p.Val226Ala
XM_011530365.1:c.314T>C	XP_011528667.1:p.Val105Ala
NM_006953.4:c.671T>C MANE Select	NP_008884.1:p.Val224Ala
NM_001167574.2:c.308T>C	NP_001161046.1:p.Val103Ala