Canonical Allele Identifier: CA514882735
Gene: UPK3A HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.45689138C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293257C>T , CM000684.2:g.45293257C>T GRCh38
NC_000022.10:g.45689138C>T , CM000684.1:g.45689138C>T GRCh37
NC_000022.9:g.44067802C>T NCBI36
NG_016203.1:g.13271C>T
NG_016203.2:g.13271C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.648C>T MANE Select ENSP00000216211.4:p.Gly216=
ENST00000216211.8:c.648C>T ENSP00000216211.4:p.Gly216=
ENST00000396082.2:c.285C>T ENSP00000379391.2:p.Gly95=
NM_001167574.1:c.285C>T NP_001161046.1:p.Gly95=
NM_006953.3:c.648C>T NP_008884.1:p.Gly216=
XM_011530364.1:c.654C>T XP_011528666.1:p.Gly218=
XM_011530365.1:c.291C>T XP_011528667.1:p.Gly97=
NM_006953.4:c.648C>T MANE Select NP_008884.1:p.Gly216=
NM_001167574.2:c.285C>T NP_001161046.1:p.Gly95=