Canonical Allele Identifier: CA386292777

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 802884
• ClinVar RCV Id: RCV000988896
• dbSNP Id: rs1594204203
• MyVariant Identifiers: chr12:g.102147296G>T (hg19) ; chr12:g.101753518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753518G>T , CM000674.2:g.101753518G>T	GRCh38
NC_000012.11:g.102147296G>T , CM000674.1:g.102147296G>T	GRCh37
NC_000012.10:g.100671427G>T	NCBI36
NG_021243.1:g.82350C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3456C>A MANE Select	ENSP00000299314.7:p.Asp1152Glu
ENST00000299314.11:c.3456C>A	ENSP00000299314.7:p.Asp1152Glu
ENST00000549738.5:c.354C>A	ENSP00000450161.1:n.354C>A
NM_024312.4:c.3456C>A	NP_077288.2:p.Asp1152Glu
XM_011538731.1:c.3375C>A	XP_011537033.1:p.Asp1125Glu
XM_011538731.2:c.3375C>A	XP_011537033.1:p.Asp1125Glu
XM_017019961.1:c.3240C>A	XP_016875450.1:p.Asp1080Glu
XM_017019962.2:c.2229C>A	XP_016875451.1:p.Asp743Glu
NM_024312.5:c.3456C>A MANE Select	NP_077288.2:p.Asp1152Glu