Canonical Allele Identifier: CA2657267301

Gene: UPK3A

Linked Data

• gnomAD v4: 22-45293396-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293396T>C , CM000684.2:g.45293396T>C	GRCh38
NC_000022.10:g.45689277T>C , CM000684.1:g.45689277T>C	GRCh37
NC_000022.9:g.44067941T>C	NCBI36
NG_016203.1:g.13410T>C
NG_016203.2:g.13410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.704+83T>C MANE Select	ENSP00000216211.4:n.704+83T>C
ENST00000216211.8:c.704+83T>C	ENSP00000216211.4:n.704+83T>C
ENST00000396082.2:c.341+83T>C	ENSP00000379391.2:n.341+83T>C
NM_001167574.1:c.341+83T>C	NP_001161046.1:n.341+83T>C
NM_006953.3:c.704+83T>C	NP_008884.1:n.704+83T>C
XM_011530364.1:c.710+83T>C	XP_011528666.1:n.710+83T>C
XM_011530365.1:c.347+83T>C	XP_011528667.1:n.347+83T>C
NM_006953.4:c.704+83T>C MANE Select	NP_008884.1:n.704+83T>C
NM_001167574.2:c.341+83T>C	NP_001161046.1:n.341+83T>C