Canonical Allele Identifier: CA2657267312

Gene: UPK3A

Linked Data

• gnomAD v4: 22-45293415-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293415C>G , CM000684.2:g.45293415C>G	GRCh38
NC_000022.10:g.45689296C>G , CM000684.1:g.45689296C>G	GRCh37
NC_000022.9:g.44067960C>G	NCBI36
NG_016203.1:g.13429C>G
NG_016203.2:g.13429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.704+102C>G MANE Select	ENSP00000216211.4:n.704+102C>G
ENST00000216211.8:c.704+102C>G	ENSP00000216211.4:n.704+102C>G
ENST00000396082.2:c.341+102C>G	ENSP00000379391.2:n.341+102C>G
NM_001167574.1:c.341+102C>G	NP_001161046.1:n.341+102C>G
NM_006953.3:c.704+102C>G	NP_008884.1:n.704+102C>G
XM_011530364.1:c.710+102C>G	XP_011528666.1:n.710+102C>G
XM_011530365.1:c.347+102C>G	XP_011528667.1:n.347+102C>G
NM_006953.4:c.704+102C>G MANE Select	NP_008884.1:n.704+102C>G
NM_001167574.2:c.341+102C>G	NP_001161046.1:n.341+102C>G