Canonical Allele Identifier: CA929538222

Gene: PBLD

Linked Data

• gnomAD v3: 10-68309384-A-G
• gnomAD v4: 10-68309384-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68309384A>G , CM000672.2:g.68309384A>G	GRCh38
NC_000010.10:g.70069141A>G , CM000672.1:g.70069141A>G	GRCh37
NC_000010.9:g.69739147A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000358769.7:c.-59-2481T>C MANE Select	ENSP00000351619.2:n.-59-2481T>C
ENST00000309049.8:c.-62-2478T>C	ENSP00000308466.4:n.-62-2478T>C
ENST00000358769.6:c.-59-2481T>C	ENSP00000351619.2:n.-59-2481T>C
ENST00000495025.2:c.-62-2478T>C	ENSP00000476306.1:n.-62-2478T>C
NM_001033083.1:c.-59-2481T>C	NP_001028255.1:n.-59-2481T>C
NM_022129.3:c.-59-2481T>C	NP_071412.2:n.-59-2481T>C
XM_005270028.2:c.-62-2478T>C	XP_005270085.1:n.-62-2478T>C
XM_005270029.3:c.-62-2478T>C	XP_005270086.1:n.-62-2478T>C
XM_011540059.1:c.-62-2478T>C	XP_011538361.1:n.-62-2478T>C
XM_011540060.1:c.-62-2478T>C	XP_011538362.1:n.-62-2478T>C
XM_005270028.4:c.-62-2478T>C	XP_005270085.1:n.-62-2478T>C
XM_011540060.3:c.-62-2478T>C	XP_011538362.1:n.-62-2478T>C
XM_017016513.1:c.-59-2481T>C	XP_016872002.1:n.-59-2481T>C
XM_017016514.1:c.-62-2478T>C	XP_016872003.1:n.-62-2478T>C
NM_022129.4:c.-59-2481T>C MANE Select	NP_071412.2:n.-59-2481T>C
NM_001033083.2:c.-59-2481T>C	NP_001028255.1:n.-59-2481T>C