Canonical Allele Identifier: CA514882750
Gene: UPK3A HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.45689156A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293275A>G , CM000684.2:g.45293275A>G GRCh38
NC_000022.10:g.45689156A>G , CM000684.1:g.45689156A>G GRCh37
NC_000022.9:g.44067820A>G NCBI36
NG_016203.1:g.13289A>G
NG_016203.2:g.13289A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.666A>G MANE Select ENSP00000216211.4:p.Leu222=
ENST00000216211.8:c.666A>G ENSP00000216211.4:p.Leu222=
ENST00000396082.2:c.303A>G ENSP00000379391.2:p.Leu101=
NM_001167574.1:c.303A>G NP_001161046.1:p.Leu101=
NM_006953.3:c.666A>G NP_008884.1:p.Leu222=
XM_011530364.1:c.672A>G XP_011528666.1:p.Leu224=
XM_011530365.1:c.309A>G XP_011528667.1:p.Leu103=
NM_006953.4:c.666A>G MANE Select NP_008884.1:p.Leu222=
NM_001167574.2:c.303A>G NP_001161046.1:p.Leu101=