Canonical Allele Identifier: CA481576843

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1930979
• ClinVar RCV Id: RCV002631336
• gnomAD v4: 12-101761737-C-T
• MyVariant Identifiers: chr12:g.102155515C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761737C>T , CM000674.2:g.101761737C>T	GRCh38
NC_000012.11:g.102155515C>T , CM000674.1:g.102155515C>T	GRCh37
NC_000012.10:g.100679646C>T	NCBI36
NG_021243.1:g.74131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2742G>A MANE Select	ENSP00000299314.7:p.Leu914=
ENST00000299314.11:c.2742G>A	ENSP00000299314.7:p.Leu914=
NM_024312.4:c.2742G>A	NP_077288.2:p.Leu914=
XM_006719593.2:c.2742G>A	XP_006719656.1:p.Leu914=
XM_011538731.1:c.2661G>A	XP_011537033.1:p.Leu887=
XM_006719593.3:c.2742G>A	XP_006719656.1:p.Leu914=
XM_011538731.2:c.2661G>A	XP_011537033.1:p.Leu887=
XM_017019961.1:c.2526G>A	XP_016875450.1:p.Leu842=
XM_017019962.2:c.1515G>A	XP_016875451.1:p.Leu505=
NM_024312.5:c.2742G>A MANE Select	NP_077288.2:p.Leu914=