Canonical Allele Identifier: CA929538283

Gene: PBLD

Linked Data

• dbSNP Id: rs2134486387
• gnomAD v3: 10-68309400-A-T
• gnomAD v4: 10-68309400-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68309400A>T , CM000672.2:g.68309400A>T	GRCh38
NC_000010.10:g.70069157A>T , CM000672.1:g.70069157A>T	GRCh37
NC_000010.9:g.69739163A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000358769.7:c.-59-2497T>A MANE Select	ENSP00000351619.2:n.-59-2497T>A
ENST00000309049.8:c.-62-2494T>A	ENSP00000308466.4:n.-62-2494T>A
ENST00000358769.6:c.-59-2497T>A	ENSP00000351619.2:n.-59-2497T>A
ENST00000495025.2:c.-62-2494T>A	ENSP00000476306.1:n.-62-2494T>A
NM_001033083.1:c.-59-2497T>A	NP_001028255.1:n.-59-2497T>A
NM_022129.3:c.-59-2497T>A	NP_071412.2:n.-59-2497T>A
XM_005270028.2:c.-62-2494T>A	XP_005270085.1:n.-62-2494T>A
XM_005270029.3:c.-62-2494T>A	XP_005270086.1:n.-62-2494T>A
XM_011540059.1:c.-62-2494T>A	XP_011538361.1:n.-62-2494T>A
XM_011540060.1:c.-62-2494T>A	XP_011538362.1:n.-62-2494T>A
XM_005270028.4:c.-62-2494T>A	XP_005270085.1:n.-62-2494T>A
XM_011540060.3:c.-62-2494T>A	XP_011538362.1:n.-62-2494T>A
XM_017016513.1:c.-59-2497T>A	XP_016872002.1:n.-59-2497T>A
XM_017016514.1:c.-62-2494T>A	XP_016872003.1:n.-62-2494T>A
NM_022129.4:c.-59-2497T>A MANE Select	NP_071412.2:n.-59-2497T>A
NM_001033083.2:c.-59-2497T>A	NP_001028255.1:n.-59-2497T>A