Canonical Allele Identifier: CA2408185543
Gene: UPK3A HGNC NCBI

Linked Data

dbSNP Id: rs2084175917
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293483T>C , CM000684.2:g.45293483T>C GRCh38
NC_000022.10:g.45689364T>C , CM000684.1:g.45689364T>C GRCh37
NC_000022.9:g.44068028T>C NCBI36
NG_016203.1:g.13497T>C
NG_016203.2:g.13497T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216211.9:c.704+170T>C MANE Select ENSP00000216211.4:n.704+170T>C
ENST00000216211.8:c.704+170T>C ENSP00000216211.4:n.704+170T>C
ENST00000396082.2:c.341+170T>C ENSP00000379391.2:n.341+170T>C
NM_001167574.1:c.341+170T>C NP_001161046.1:n.341+170T>C
NM_006953.3:c.704+170T>C NP_008884.1:n.704+170T>C
XM_011530364.1:c.710+170T>C XP_011528666.1:n.710+170T>C
XM_011530365.1:c.347+170T>C XP_011528667.1:n.347+170T>C
NM_006953.4:c.704+170T>C MANE Select NP_008884.1:n.704+170T>C
NM_001167574.2:c.341+170T>C NP_001161046.1:n.341+170T>C
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