Canonical Allele Identifier: CA144551

Gene: GMPPB

Linked Data

• ClinVar Variation Id: 60540
• ClinVar RCV Id: RCV000054432 ; RCV000054433 ; RCV000256412 ; RCV000651273 ; RCV000788090 ; RCV001836725 ; RCV002513710 ; RCV003398643
• dbSNP Id: rs397509422
• ExAC: 3:49759268 C / T
• gnomAD v2: 3-49759268-C-T
• gnomAD v3: 3-49721835-C-T
• gnomAD v4: 3-49721835-C-T
• MyVariant Identifiers: chr3:g.49759268C>T (hg19) ; chr3:g.49721835C>T (hg38)
• PubMed: PMID:23768512

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49721835C>T , CM000665.2:g.49721835C>T	GRCh38
NC_000003.11:g.49759268C>T , CM000665.1:g.49759268C>T	GRCh37
NC_000003.10:g.49734272C>T	NCBI36
NG_011603.1:g.37279C>T
NG_033731.1:g.7140G>A
NG_033731.2:g.7140G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000308388.7:c.1000G>A MANE Select	ENSP00000311130.6:p.Asp334Asn
ENST00000481959.2:n.1573G>A
ENST00000495627.2:c.1108G>A	ENSP00000503768.1:p.Asp370Asn
ENST00000677393.1:c.*17G>A	ENSP00000503880.1:n.*17G>A
ENST00000678010.1:c.634G>A	ENSP00000503176.1:p.Asp212Asn
ENST00000678208.1:n.1434G>A
ENST00000678853.1:c.*291G>A	ENSP00000504692.1:n.*291G>A
ENST00000308375.10:c.1081G>A	ENSP00000309092.6:p.Asp361Asn
ENST00000308388.6:c.1000G>A	ENSP00000311130.6:p.Asp334Asn
ENST00000480687.5:c.1000G>A	ENSP00000418565.1:p.Asp334Asn
NM_013334.3:c.1081G>A	NP_037466.2:p.Asp361Asn
NM_021971.2:c.1000G>A	NP_068806.1:p.Asp334Asn
NM_021971.4:c.1000G>A MANE Select	NP_068806.2:p.Asp334Asn
NM_013334.4:c.1081G>A	NP_037466.3:p.Asp361Asn