Canonical Allele Identifier: CA386296446

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2098459
• ClinVar RCV Id: RCV003019192
• MyVariant Identifiers: chr12:g.102155509G>C (hg19) ; chr12:g.101761731G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761731G>C , CM000674.2:g.101761731G>C	GRCh38
NC_000012.11:g.102155509G>C , CM000674.1:g.102155509G>C	GRCh37
NC_000012.10:g.100679640G>C	NCBI36
NG_021243.1:g.74137C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2748C>G MANE Select	ENSP00000299314.7:p.Tyr916Ter
ENST00000299314.11:c.2748C>G	ENSP00000299314.7:p.Tyr916Ter
NM_024312.4:c.2748C>G	NP_077288.2:p.Tyr916Ter
XM_006719593.2:c.2748C>G	XP_006719656.1:p.Tyr916Ter
XM_011538731.1:c.2667C>G	XP_011537033.1:p.Tyr889Ter
XM_006719593.3:c.2748C>G	XP_006719656.1:p.Tyr916Ter
XM_011538731.2:c.2667C>G	XP_011537033.1:p.Tyr889Ter
XM_017019961.1:c.2532C>G	XP_016875450.1:p.Tyr844Ter
XM_017019962.2:c.1521C>G	XP_016875451.1:p.Tyr507Ter
NM_024312.5:c.2748C>G MANE Select	NP_077288.2:p.Tyr916Ter