Canonical Allele Identifier: CA411879537

Gene: UPK3A

Linked Data

• MyVariant Identifiers: chr22:g.45689184C>T (hg19) ; chr22:g.45293303C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293303C>T , CM000684.2:g.45293303C>T	GRCh38
NC_000022.10:g.45689184C>T , CM000684.1:g.45689184C>T	GRCh37
NC_000022.9:g.44067848C>T	NCBI36
NG_016203.1:g.13317C>T
NG_016203.2:g.13317C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.694C>T MANE Select	ENSP00000216211.4:p.Leu232Phe
ENST00000216211.8:c.694C>T	ENSP00000216211.4:p.Leu232Phe
ENST00000396082.2:c.331C>T	ENSP00000379391.2:p.Leu111Phe
NM_001167574.1:c.331C>T	NP_001161046.1:p.Leu111Phe
NM_006953.3:c.694C>T	NP_008884.1:p.Leu232Phe
XM_011530364.1:c.700C>T	XP_011528666.1:p.Leu234Phe
XM_011530365.1:c.337C>T	XP_011528667.1:p.Leu113Phe
NM_006953.4:c.694C>T MANE Select	NP_008884.1:p.Leu232Phe
NM_001167574.2:c.331C>T	NP_001161046.1:p.Leu111Phe