Canonical Allele Identifier: CA10576145

Gene: GMPPB

Linked Data

• ClinVar Variation Id: 225927
• ClinVar RCV Id: RCV000211125 ; RCV001814120
• dbSNP Id: rs875989851
• MyVariant Identifiers: chr3:g.49760499G>A (hg19) ; chr3:g.49723066G>A (hg38)
• PubMed: PMID:26133662

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49723066G>A , CM000665.2:g.49723066G>A	GRCh38
NC_000003.11:g.49760499G>A , CM000665.1:g.49760499G>A	GRCh37
NC_000003.10:g.49735503G>A	NCBI36
NG_011603.1:g.38510G>A
NG_033731.1:g.5909C>T
NG_033731.2:g.5909C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308388.7:c.308C>T MANE Select	ENSP00000311130.6:p.Pro103Leu
ENST00000481959.2:n.664C>T
ENST00000495627.2:c.308C>T	ENSP00000503768.1:p.Pro103Leu
ENST00000677393.1:c.308C>T	ENSP00000503880.1:p.Pro103Leu
ENST00000678010.1:c.308C>T	ENSP00000503176.1:p.Pro103Leu
ENST00000678208.1:n.525C>T
ENST00000678853.1:c.308C>T	ENSP00000504692.1:p.Pro103Leu
ENST00000308375.10:c.308C>T	ENSP00000309092.6:p.Pro103Leu
ENST00000308388.6:c.308C>T	ENSP00000311130.6:p.Pro103Leu
ENST00000480687.5:c.308C>T	ENSP00000418565.1:p.Pro103Leu
ENST00000481959.1:n.610C>T
ENST00000495627.1:n.637C>T
NM_013334.3:c.308C>T	NP_037466.2:p.Pro103Leu
NM_021971.2:c.308C>T	NP_068806.1:p.Pro103Leu
NM_021971.4:c.308C>T MANE Select	NP_068806.2:p.Pro103Leu
NM_013334.4:c.308C>T	NP_037466.3:p.Pro103Leu