Canonical Allele Identifier: CA481576820

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1591995
• ClinVar RCV Id: RCV002096474
• dbSNP Id: rs1952999348
• MyVariant Identifiers: chr12:g.102155476T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761698T>C , CM000674.2:g.101761698T>C	GRCh38
NC_000012.11:g.102155476T>C , CM000674.1:g.102155476T>C	GRCh37
NC_000012.10:g.100679607T>C	NCBI36
NG_021243.1:g.74170A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2781A>G MANE Select	ENSP00000299314.7:p.Leu927=
ENST00000299314.11:c.2781A>G	ENSP00000299314.7:p.Leu927=
NM_024312.4:c.2781A>G	NP_077288.2:p.Leu927=
XM_006719593.2:c.2781A>G	XP_006719656.1:p.Leu927=
XM_011538731.1:c.2700A>G	XP_011537033.1:p.Leu900=
XM_006719593.3:c.2781A>G	XP_006719656.1:p.Leu927=
XM_011538731.2:c.2700A>G	XP_011537033.1:p.Leu900=
XM_017019961.1:c.2565A>G	XP_016875450.1:p.Leu855=
XM_017019962.2:c.1554A>G	XP_016875451.1:p.Leu518=
NM_024312.5:c.2781A>G MANE Select	NP_077288.2:p.Leu927=