Canonical Allele Identifier: CA267599

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 100737
• ClinVar RCV Id: RCV000087103 ; RCV001110795 ; RCV002514535 ; RCV002228331 ; RCV003332114
• dbSNP Id: rs149390820
• ExAC: 12:102158921 C / T
• gnomAD v2: 12-102158921-C-T
• gnomAD v3: 12-101765143-C-T
• gnomAD v4: 12-101765143-C-T
• MyVariant Identifiers: chr12:g.102158921C>T (hg19) ; chr12:g.101765143C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101765143C>T , CM000674.2:g.101765143C>T	GRCh38
NC_000012.11:g.102158921C>T , CM000674.1:g.102158921C>T	GRCh37
NC_000012.10:g.100683052C>T	NCBI36
NG_021243.1:g.70725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1774G>A MANE Select	ENSP00000299314.7:p.Ala592Thr
ENST00000299314.11:c.1774G>A	ENSP00000299314.7:p.Ala592Thr
NM_024312.4:c.1774G>A	NP_077288.2:p.Ala592Thr
XM_006719593.2:c.1774G>A	XP_006719656.1:p.Ala592Thr
XM_011538731.1:c.1693G>A	XP_011537033.1:p.Ala565Thr
XM_006719593.3:c.1774G>A	XP_006719656.1:p.Ala592Thr
XM_011538731.2:c.1693G>A	XP_011537033.1:p.Ala565Thr
XM_017019961.1:c.1558G>A	XP_016875450.1:p.Ala520Thr
XM_017019962.2:c.547G>A	XP_016875451.1:p.Ala183Thr
NM_024312.5:c.1774G>A MANE Select	NP_077288.2:p.Ala592Thr