Canonical Allele Identifier: CA343383

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39061
• ClinVar RCV Id: RCV000032326 ; RCV001852649
• dbSNP Id: rs281865004
• MyVariant Identifiers: chr12:g.102155391G>A (hg19) ; chr12:g.101761613G>A (hg38)
• PubMed: PMID:19197337 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761613G>A , CM000674.2:g.101761613G>A	GRCh38
NC_000012.11:g.102155391G>A , CM000674.1:g.102155391G>A	GRCh37
NC_000012.10:g.100679522G>A	NCBI36
NG_021243.1:g.74255C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2866C>T MANE Select	ENSP00000299314.7:p.His956Tyr
ENST00000299314.11:c.2866C>T	ENSP00000299314.7:p.His956Tyr
NM_024312.4:c.2866C>T	NP_077288.2:p.His956Tyr
XM_006719593.2:c.2866C>T	XP_006719656.1:p.His956Tyr
XM_011538731.1:c.2785C>T	XP_011537033.1:p.His929Tyr
XM_006719593.3:c.2866C>T	XP_006719656.1:p.His956Tyr
XM_011538731.2:c.2785C>T	XP_011537033.1:p.His929Tyr
XM_017019961.1:c.2650C>T	XP_016875450.1:p.His884Tyr
XM_017019962.2:c.1639C>T	XP_016875451.1:p.His547Tyr
NM_024312.5:c.2866C>T MANE Select	NP_077288.2:p.His956Tyr