Canonical Allele Identifier: CA343068

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 38419
• ClinVar RCV Id: RCV000031973
• dbSNP Id: rs281865028
• MyVariant Identifiers: chr12:g.102158162G>A (hg19) ; chr12:g.101764384G>A (hg38)
• PubMed: PMID:16200072 ; PMID:16630736 ; PMID:20301730

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764384G>A , CM000674.2:g.101764384G>A	GRCh38
NC_000012.11:g.102158162G>A , CM000674.1:g.102158162G>A	GRCh37
NC_000012.10:g.100682293G>A	NCBI36
NG_021243.1:g.71484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2533C>T MANE Select	ENSP00000299314.7:p.Gln845Ter
ENST00000299314.11:c.2533C>T	ENSP00000299314.7:p.Gln845Ter
NM_024312.4:c.2533C>T	NP_077288.2:p.Gln845Ter
XM_006719593.2:c.2533C>T	XP_006719656.1:p.Gln845Ter
XM_011538731.1:c.2452C>T	XP_011537033.1:p.Gln818Ter
XM_006719593.3:c.2533C>T	XP_006719656.1:p.Gln845Ter
XM_011538731.2:c.2452C>T	XP_011537033.1:p.Gln818Ter
XM_017019961.1:c.2317C>T	XP_016875450.1:p.Gln773Ter
XM_017019962.2:c.1306C>T	XP_016875451.1:p.Gln436Ter
NM_024312.5:c.2533C>T MANE Select	NP_077288.2:p.Gln845Ter