Canonical Allele Identifier: CA639614181

Gene: UPK3A

Linked Data

• dbSNP Id: rs1170095566
• gnomAD v2: 22-45689358-C-T
• gnomAD v3: 22-45293477-C-T
• gnomAD v4: 22-45293477-C-T
• MyVariant Identifiers: chr22:g.45689358C>T (hg19) ; chr22:g.45293477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293477C>T , CM000684.2:g.45293477C>T	GRCh38
NC_000022.10:g.45689358C>T , CM000684.1:g.45689358C>T	GRCh37
NC_000022.9:g.44068022C>T	NCBI36
NG_016203.1:g.13491C>T
NG_016203.2:g.13491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.704+164C>T MANE Select	ENSP00000216211.4:n.704+164C>T
ENST00000216211.8:c.704+164C>T	ENSP00000216211.4:n.704+164C>T
ENST00000396082.2:c.341+164C>T	ENSP00000379391.2:n.341+164C>T
NM_001167574.1:c.341+164C>T	NP_001161046.1:n.341+164C>T
NM_006953.3:c.704+164C>T	NP_008884.1:n.704+164C>T
XM_011530364.1:c.710+164C>T	XP_011528666.1:n.710+164C>T
XM_011530365.1:c.347+164C>T	XP_011528667.1:n.347+164C>T
NM_006953.4:c.704+164C>T MANE Select	NP_008884.1:n.704+164C>T
NM_001167574.2:c.341+164C>T	NP_001161046.1:n.341+164C>T