Canonical Allele Identifier: CA343332

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39019
• ClinVar RCV Id: RCV000032284 ; RCV001246458
• dbSNP Id: rs281864970
• gnomAD v4: 12-101770518-C-A
• MyVariant Identifiers: chr12:g.102164296C>A (hg19) ; chr12:g.101770518C>A (hg38)
• PubMed: PMID:19197337 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770518C>A , CM000674.2:g.101770518C>A	GRCh38
NC_000012.11:g.102164296C>A , CM000674.1:g.102164296C>A	GRCh37
NC_000012.10:g.100688427C>A	NCBI36
NG_021243.1:g.65350G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1001G>T MANE Select	ENSP00000299314.7:p.Arg334Leu
ENST00000299314.11:c.1001G>T	ENSP00000299314.7:p.Arg334Leu
ENST00000549940.5:c.1001G>T	ENSP00000449150.1:p.Arg334Leu
NM_024312.4:c.1001G>T	NP_077288.2:p.Arg334Leu
XM_006719593.2:c.1001G>T	XP_006719656.1:p.Arg334Leu
XM_011538731.1:c.920G>T	XP_011537033.1:p.Arg307Leu
XM_006719593.3:c.1001G>T	XP_006719656.1:p.Arg334Leu
XM_011538731.2:c.920G>T	XP_011537033.1:p.Arg307Leu
XM_017019961.1:c.785G>T	XP_016875450.1:p.Arg262Leu
XM_017019962.2:c.-227G>T	XP_016875451.1:n.-227G>T
NM_024312.5:c.1001G>T MANE Select	NP_077288.2:p.Arg334Leu