Canonical Allele Identifier: CA340011

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2765
• ClinVar RCV Id: RCV000002893
• dbSNP Id: rs137852898
• MyVariant Identifiers: chr12:g.102153884G>C (hg19) ; chr12:g.101760106G>C (hg38)
• PubMed: PMID:16116615 ; PMID:20301730

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760106G>C , CM000674.2:g.101760106G>C	GRCh38
NC_000012.11:g.102153884G>C , CM000674.1:g.102153884G>C	GRCh37
NC_000012.10:g.100678015G>C	NCBI36
NG_021243.1:g.75762C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3173C>G MANE Select	ENSP00000299314.7:p.Ser1058Ter
ENST00000299314.11:c.3173C>G	ENSP00000299314.7:p.Ser1058Ter
ENST00000549194.1:n.39C>G
NM_024312.4:c.3173C>G	NP_077288.2:p.Ser1058Ter
XM_006719593.2:c.3173C>G	XP_006719656.1:p.Ser1058Ter
XM_011538731.1:c.3092C>G	XP_011537033.1:p.Ser1031Ter
XM_006719593.3:c.3173C>G	XP_006719656.1:p.Ser1058Ter
XM_011538731.2:c.3092C>G	XP_011537033.1:p.Ser1031Ter
XM_017019961.1:c.2957C>G	XP_016875450.1:p.Ser986Ter
XM_017019962.2:c.1946C>G	XP_016875451.1:p.Ser649Ter
NM_024312.5:c.3173C>G MANE Select	NP_077288.2:p.Ser1058Ter