Canonical Allele Identifier: CA753583280

Gene: UPK3A

Linked Data

• dbSNP Id: rs1388245496
• MyVariant Identifiers: chr22:g.45689432T>C (hg19) ; chr22:g.45293551T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293551T>C , CM000684.2:g.45293551T>C	GRCh38
NC_000022.10:g.45689432T>C , CM000684.1:g.45689432T>C	GRCh37
NC_000022.9:g.44068096T>C	NCBI36
NG_016203.1:g.13565T>C
NG_016203.2:g.13565T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.704+238T>C MANE Select	ENSP00000216211.4:n.704+238T>C
ENST00000216211.8:c.704+238T>C	ENSP00000216211.4:n.704+238T>C
ENST00000396082.2:c.341+238T>C	ENSP00000379391.2:n.341+238T>C
NM_001167574.1:c.341+238T>C	NP_001161046.1:n.341+238T>C
NM_006953.3:c.704+238T>C	NP_008884.1:n.704+238T>C
XM_011530364.1:c.710+238T>C	XP_011528666.1:n.710+238T>C
XM_011530365.1:c.347+238T>C	XP_011528667.1:n.347+238T>C
NM_006953.4:c.704+238T>C MANE Select	NP_008884.1:n.704+238T>C
NM_001167574.2:c.341+238T>C	NP_001161046.1:n.341+238T>C