Canonical Allele Identifier: CA343350

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39035
• ClinVar RCV Id: RCV000032300 ; RCV000626961 ; RCV000762881
• dbSNP Id: rs281864980
• ExAC: 12:102159967 C / T
• gnomAD v2: 12-102159967-C-T
• gnomAD v3: 12-101766189-C-T
• gnomAD v4: 12-101766189-C-T
• MyVariant Identifiers: chr12:g.102159967C>T (hg19) ; chr12:g.101766189C>T (hg38)
• PubMed: PMID:19617216 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101766189C>T , CM000674.2:g.101766189C>T	GRCh38
NC_000012.11:g.102159967C>T , CM000674.1:g.102159967C>T	GRCh37
NC_000012.10:g.100684098C>T	NCBI36
NG_021243.1:g.69679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1514G>A MANE Select	ENSP00000299314.7:p.Cys505Tyr
ENST00000299314.11:c.1514G>A	ENSP00000299314.7:p.Cys505Tyr
ENST00000552009.1:n.173G>A
NM_024312.4:c.1514G>A	NP_077288.2:p.Cys505Tyr
XM_006719593.2:c.1514G>A	XP_006719656.1:p.Cys505Tyr
XM_011538731.1:c.1433G>A	XP_011537033.1:p.Cys478Tyr
XM_006719593.3:c.1514G>A	XP_006719656.1:p.Cys505Tyr
XM_011538731.2:c.1433G>A	XP_011537033.1:p.Cys478Tyr
XM_017019961.1:c.1298G>A	XP_016875450.1:p.Cys433Tyr
XM_017019962.2:c.287G>A	XP_016875451.1:p.Cys96Tyr
NM_024312.5:c.1514G>A MANE Select	NP_077288.2:p.Cys505Tyr