Canonical Allele Identifier: CA344273

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 41256
• ClinVar RCV Id: RCV000034157 ; RCV001852693 ; RCV003226172
• dbSNP Id: rs281865007
• ExAC: 12:102154987 T / C
• gnomAD v2: 12-102154987-T-C
• gnomAD v4: 12-101761209-T-C
• MyVariant Identifiers: chr12:g.102154987T>C (hg19) ; chr12:g.101761209T>C (hg38)
• PubMed: PMID:19617216 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761209T>C , CM000674.2:g.101761209T>C	GRCh38
NC_000012.11:g.102154987T>C , CM000674.1:g.102154987T>C	GRCh37
NC_000012.10:g.100679118T>C	NCBI36
NG_021243.1:g.74659A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3053A>G MANE Select	ENSP00000299314.7:p.Asp1018Gly
ENST00000299314.11:c.3053A>G	ENSP00000299314.7:p.Asp1018Gly
NM_024312.4:c.3053A>G	NP_077288.2:p.Asp1018Gly
XM_006719593.2:c.3053A>G	XP_006719656.1:p.Asp1018Gly
XM_011538731.1:c.2972A>G	XP_011537033.1:p.Asp991Gly
XM_006719593.3:c.3053A>G	XP_006719656.1:p.Asp1018Gly
XM_011538731.2:c.2972A>G	XP_011537033.1:p.Asp991Gly
XM_017019961.1:c.2837A>G	XP_016875450.1:p.Asp946Gly
XM_017019962.2:c.1826A>G	XP_016875451.1:p.Asp609Gly
NM_024312.5:c.3053A>G MANE Select	NP_077288.2:p.Asp1018Gly