Canonical Allele Identifier: CA10587139

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 261697
• ClinVar RCV Id: RCV000252236 ; RCV001112853 ; RCV001112852
• dbSNP Id: rs886038684
• MyVariant Identifiers: chr12:g.102174341G>A (hg19) ; chr12:g.101780563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101780563G>A , CM000674.2:g.101780563G>A	GRCh38
NC_000012.11:g.102174341G>A , CM000674.1:g.102174341G>A	GRCh37
NC_000012.10:g.100698472G>A	NCBI36
NG_021243.1:g.55305C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.630C>T MANE Select	ENSP00000299314.7:p.Gly210=
ENST00000299314.11:c.630C>T	ENSP00000299314.7:p.Gly210=
ENST00000549940.5:c.630C>T	ENSP00000449150.1:p.Gly210=
ENST00000552681.1:c.264C>T	ENSP00000449217.1:p.Gly88=
NM_024312.4:c.630C>T	NP_077288.2:p.Gly210=
XM_006719593.2:c.630C>T	XP_006719656.1:p.Gly210=
XM_011538731.1:c.549C>T	XP_011537033.1:p.Gly183=
XM_006719593.3:c.630C>T	XP_006719656.1:p.Gly210=
XM_011538731.2:c.549C>T	XP_011537033.1:p.Gly183=
XM_017019961.1:c.414C>T	XP_016875450.1:p.Gly138=
XM_017019962.2:c.-721C>T	XP_016875451.1:n.-721C>T
NM_024312.5:c.630C>T MANE Select	NP_077288.2:p.Gly210=