Canonical Allele Identifier: CA2657267215
Gene: UPK3A HGNC NCBI

Linked Data

gnomAD v4: 22-45293122-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45293122G>C , CM000684.2:g.45293122G>C GRCh38
NC_000022.10:g.45689003G>C , CM000684.1:g.45689003G>C GRCh37
NC_000022.9:g.44067667G>C NCBI36
NG_016203.1:g.13136G>C
NG_016203.2:g.13136G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000216211.9:c.572-59G>C MANE Select ENSP00000216211.4:n.572-59G>C
ENST00000216211.8:c.572-59G>C ENSP00000216211.4:n.572-59G>C
ENST00000396082.2:c.209-59G>C ENSP00000379391.2:n.209-59G>C
NM_001167574.1:c.209-59G>C NP_001161046.1:n.209-59G>C
NM_006953.3:c.572-59G>C NP_008884.1:n.572-59G>C
XM_011530364.1:c.578-59G>C XP_011528666.1:n.578-59G>C
XM_011530365.1:c.215-59G>C XP_011528667.1:n.215-59G>C
NM_006953.4:c.572-59G>C MANE Select NP_008884.1:n.572-59G>C
NM_001167574.2:c.209-59G>C NP_001161046.1:n.209-59G>C
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