Canonical Allele Identifier: CA343384

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39062
• ClinVar RCV Id: RCV000032327
• dbSNP Id: rs281865005
• gnomAD v4: 12-101761612-T-C
• MyVariant Identifiers: chr12:g.102155390T>C (hg19) ; chr12:g.101761612T>C (hg38)
• PubMed: PMID:19617216 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761612T>C , CM000674.2:g.101761612T>C	GRCh38
NC_000012.11:g.102155390T>C , CM000674.1:g.102155390T>C	GRCh37
NC_000012.10:g.100679521T>C	NCBI36
NG_021243.1:g.74256A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2867A>G MANE Select	ENSP00000299314.7:p.His956Arg
ENST00000299314.11:c.2867A>G	ENSP00000299314.7:p.His956Arg
NM_024312.4:c.2867A>G	NP_077288.2:p.His956Arg
XM_006719593.2:c.2867A>G	XP_006719656.1:p.His956Arg
XM_011538731.1:c.2786A>G	XP_011537033.1:p.His929Arg
XM_006719593.3:c.2867A>G	XP_006719656.1:p.His956Arg
XM_011538731.2:c.2786A>G	XP_011537033.1:p.His929Arg
XM_017019961.1:c.2651A>G	XP_016875450.1:p.His884Arg
XM_017019962.2:c.1640A>G	XP_016875451.1:p.His547Arg
NM_024312.5:c.2867A>G MANE Select	NP_077288.2:p.His956Arg