Canonical Allele Identifier: CA386302492

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2320429
• ClinVar RCV Id: RCV002920089
• MyVariant Identifiers: chr12:g.102163846T>C (hg19) ; chr12:g.101770068T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770068T>C , CM000674.2:g.101770068T>C	GRCh38
NC_000012.11:g.102163846T>C , CM000674.1:g.102163846T>C	GRCh37
NC_000012.10:g.100687977T>C	NCBI36
NG_021243.1:g.65800A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1237A>G MANE Select	ENSP00000299314.7:p.Lys413Glu
ENST00000299314.11:c.1237A>G	ENSP00000299314.7:p.Lys413Glu
ENST00000549940.5:c.1237A>G	ENSP00000449150.1:p.Lys413Glu
NM_024312.4:c.1237A>G	NP_077288.2:p.Lys413Glu
XM_006719593.2:c.1237A>G	XP_006719656.1:p.Lys413Glu
XM_011538731.1:c.1156A>G	XP_011537033.1:p.Lys386Glu
XM_006719593.3:c.1237A>G	XP_006719656.1:p.Lys413Glu
XM_011538731.2:c.1156A>G	XP_011537033.1:p.Lys386Glu
XM_017019961.1:c.1021A>G	XP_016875450.1:p.Lys341Glu
XM_017019962.2:c.10A>G	XP_016875451.1:p.Lys4Glu
NM_024312.5:c.1237A>G MANE Select	NP_077288.2:p.Lys413Glu