Canonical Allele Identifier: CA481317697

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2953003
• ClinVar RCV Id: RCV003818137
• gnomAD v4: 12-101753485-T-C
• MyVariant Identifiers: chr12:g.102147263T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753485T>C , CM000674.2:g.101753485T>C	GRCh38
NC_000012.11:g.102147263T>C , CM000674.1:g.102147263T>C	GRCh37
NC_000012.10:g.100671394T>C	NCBI36
NG_021243.1:g.82383A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3489A>G MANE Select	ENSP00000299314.7:p.Thr1163=
ENST00000299314.11:c.3489A>G	ENSP00000299314.7:p.Thr1163=
ENST00000549738.5:c.387A>G	ENSP00000450161.1:n.387A>G
NM_024312.4:c.3489A>G	NP_077288.2:p.Thr1163=
XM_011538731.1:c.3408A>G	XP_011537033.1:p.Thr1136=
XM_011538731.2:c.3408A>G	XP_011537033.1:p.Thr1136=
XM_017019961.1:c.3273A>G	XP_016875450.1:p.Thr1091=
XM_017019962.2:c.2262A>G	XP_016875451.1:p.Thr754=
NM_024312.5:c.3489A>G MANE Select	NP_077288.2:p.Thr1163=