Canonical Allele Identifier: CA386296109

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1463358241
• gnomAD v2: 12-102155355-C-T
• gnomAD v4: 12-101761577-C-T
• MyVariant Identifiers: chr12:g.102155355C>T (hg19) ; chr12:g.101761577C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761577C>T , CM000674.2:g.101761577C>T	GRCh38
NC_000012.11:g.102155355C>T , CM000674.1:g.102155355C>T	GRCh37
NC_000012.10:g.100679486C>T	NCBI36
NG_021243.1:g.74291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2902G>A MANE Select	ENSP00000299314.7:p.Glu968Lys
ENST00000299314.11:c.2902G>A	ENSP00000299314.7:p.Glu968Lys
NM_024312.4:c.2902G>A	NP_077288.2:p.Glu968Lys
XM_006719593.2:c.2902G>A	XP_006719656.1:p.Glu968Lys
XM_011538731.1:c.2821G>A	XP_011537033.1:p.Glu941Lys
XM_006719593.3:c.2902G>A	XP_006719656.1:p.Glu968Lys
XM_011538731.2:c.2821G>A	XP_011537033.1:p.Glu941Lys
XM_017019961.1:c.2686G>A	XP_016875450.1:p.Glu896Lys
XM_017019962.2:c.1675G>A	XP_016875451.1:p.Glu559Lys
NM_024312.5:c.2902G>A MANE Select	NP_077288.2:p.Glu968Lys