Canonical Allele Identifier: CA386296095

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 983856
• ClinVar RCV Id: RCV001263859
• dbSNP Id: rs1952995212
• MyVariant Identifiers: chr12:g.102155349G>A (hg19) ; chr12:g.101761571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761571G>A , CM000674.2:g.101761571G>A	GRCh38
NC_000012.11:g.102155349G>A , CM000674.1:g.102155349G>A	GRCh37
NC_000012.10:g.100679480G>A	NCBI36
NG_021243.1:g.74297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2908C>T MANE Select	ENSP00000299314.7:p.Gln970Ter
ENST00000299314.11:c.2908C>T	ENSP00000299314.7:p.Gln970Ter
NM_024312.4:c.2908C>T	NP_077288.2:p.Gln970Ter
XM_006719593.2:c.2908C>T	XP_006719656.1:p.Gln970Ter
XM_011538731.1:c.2827C>T	XP_011537033.1:p.Gln943Ter
XM_006719593.3:c.2908C>T	XP_006719656.1:p.Gln970Ter
XM_011538731.2:c.2827C>T	XP_011537033.1:p.Gln943Ter
XM_017019961.1:c.2692C>T	XP_016875450.1:p.Gln898Ter
XM_017019962.2:c.1681C>T	XP_016875451.1:p.Gln561Ter
NM_024312.5:c.2908C>T MANE Select	NP_077288.2:p.Gln970Ter