Canonical Allele Identifier: CA481577873

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2926258
• ClinVar RCV Id: RCV003786544
• gnomAD v4: 12-101770117-T-C
• MyVariant Identifiers: chr12:g.102163895T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770117T>C , CM000674.2:g.101770117T>C	GRCh38
NC_000012.11:g.102163895T>C , CM000674.1:g.102163895T>C	GRCh37
NC_000012.10:g.100688026T>C	NCBI36
NG_021243.1:g.65751A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1188A>G MANE Select	ENSP00000299314.7:p.Glu396=
ENST00000299314.11:c.1188A>G	ENSP00000299314.7:p.Glu396=
ENST00000549940.5:c.1188A>G	ENSP00000449150.1:p.Glu396=
NM_024312.4:c.1188A>G	NP_077288.2:p.Glu396=
XM_006719593.2:c.1188A>G	XP_006719656.1:p.Glu396=
XM_011538731.1:c.1107A>G	XP_011537033.1:p.Glu369=
XM_006719593.3:c.1188A>G	XP_006719656.1:p.Glu396=
XM_011538731.2:c.1107A>G	XP_011537033.1:p.Glu369=
XM_017019961.1:c.972A>G	XP_016875450.1:p.Glu324=
XM_017019962.2:c.-40A>G	XP_016875451.1:n.-40A>G
NM_024312.5:c.1188A>G MANE Select	NP_077288.2:p.Glu396=