Canonical Allele Identifier: CA1026219449
Gene: UPK3A HGNC NCBI

Linked Data

dbSNP Id: rs2084176279
gnomAD v3: 22-45293535-A-G
gnomAD v4: 22-45293535-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293535A>G , CM000684.2:g.45293535A>G GRCh38
NC_000022.10:g.45689416A>G , CM000684.1:g.45689416A>G GRCh37
NC_000022.9:g.44068080A>G NCBI36
NG_016203.1:g.13549A>G
NG_016203.2:g.13549A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.704+222A>G MANE Select ENSP00000216211.4:n.704+222A>G
ENST00000216211.8:c.704+222A>G ENSP00000216211.4:n.704+222A>G
ENST00000396082.2:c.341+222A>G ENSP00000379391.2:n.341+222A>G
NM_001167574.1:c.341+222A>G NP_001161046.1:n.341+222A>G
NM_006953.3:c.704+222A>G NP_008884.1:n.704+222A>G
XM_011530364.1:c.710+222A>G XP_011528666.1:n.710+222A>G
XM_011530365.1:c.347+222A>G XP_011528667.1:n.347+222A>G
NM_006953.4:c.704+222A>G MANE Select NP_008884.1:n.704+222A>G
NM_001167574.2:c.341+222A>G NP_001161046.1:n.341+222A>G
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