Canonical Allele Identifier: CA343362

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39043
• ClinVar RCV Id: RCV000032308
• dbSNP Id: rs281864985
• MyVariant Identifiers: chr12:g.102158696C>A (hg19) ; chr12:g.101764918C>A (hg38)
• PubMed: PMID:19659762 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764918C>A , CM000674.2:g.101764918C>A	GRCh38
NC_000012.11:g.102158696C>A , CM000674.1:g.102158696C>A	GRCh37
NC_000012.10:g.100682827C>A	NCBI36
NG_021243.1:g.70950G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1999G>T MANE Select	ENSP00000299314.7:p.Glu667Ter
ENST00000299314.11:c.1999G>T	ENSP00000299314.7:p.Glu667Ter
NM_024312.4:c.1999G>T	NP_077288.2:p.Glu667Ter
XM_006719593.2:c.1999G>T	XP_006719656.1:p.Glu667Ter
XM_011538731.1:c.1918G>T	XP_011537033.1:p.Glu640Ter
XM_006719593.3:c.1999G>T	XP_006719656.1:p.Glu667Ter
XM_011538731.2:c.1918G>T	XP_011537033.1:p.Glu640Ter
XM_017019961.1:c.1783G>T	XP_016875450.1:p.Glu595Ter
XM_017019962.2:c.772G>T	XP_016875451.1:p.Glu258Ter
NM_024312.5:c.1999G>T MANE Select	NP_077288.2:p.Glu667Ter