Canonical Allele Identifier: CA514882765
Gene: UPK3A HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.45689174C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293293C>G , CM000684.2:g.45293293C>G GRCh38
NC_000022.10:g.45689174C>G , CM000684.1:g.45689174C>G GRCh37
NC_000022.9:g.44067838C>G NCBI36
NG_016203.1:g.13307C>G
NG_016203.2:g.13307C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.684C>G MANE Select ENSP00000216211.4:p.Gly228=
ENST00000216211.8:c.684C>G ENSP00000216211.4:p.Gly228=
ENST00000396082.2:c.321C>G ENSP00000379391.2:p.Gly107=
NM_001167574.1:c.321C>G NP_001161046.1:p.Gly107=
NM_006953.3:c.684C>G NP_008884.1:p.Gly228=
XM_011530364.1:c.690C>G XP_011528666.1:p.Gly230=
XM_011530365.1:c.327C>G XP_011528667.1:p.Gly109=
NM_006953.4:c.684C>G MANE Select NP_008884.1:p.Gly228=
NM_001167574.2:c.321C>G NP_001161046.1:p.Gly107=