Canonical Allele Identifier: CA481347143

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1933458
• ClinVar RCV Id: RCV002649675
• MyVariant Identifiers: chr12:g.102224430T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830652T>C , CM000674.2:g.101830652T>C	GRCh38
NC_000012.11:g.102224430T>C , CM000674.1:g.102224430T>C	GRCh37
NC_000012.10:g.100748561T>C	NCBI36
NG_021243.1:g.5216A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.24A>G MANE Select	ENSP00000299314.7:p.Arg8=
ENST00000647144.1:n.12A>G
ENST00000299314.11:c.24A>G	ENSP00000299314.7:p.Arg8=
ENST00000392919.4:c.24A>G	ENSP00000376651.4:p.Arg8=
ENST00000549165.1:c.24A>G	ENSP00000450413.1:p.Arg8=
ENST00000549940.5:c.24A>G	ENSP00000449150.1:p.Arg8=
NM_024312.4:c.24A>G	NP_077288.2:p.Arg8=
XM_006719593.2:c.24A>G	XP_006719656.1:p.Arg8=
XM_006719593.3:c.24A>G	XP_006719656.1:p.Arg8=
XM_017019961.1:c.-126A>G	XP_016875450.1:n.-126A>G
XM_017019962.2:c.-1327A>G	XP_016875451.1:n.-1327A>G
NM_024312.5:c.24A>G MANE Select	NP_077288.2:p.Arg8=