Canonical Allele Identifier: CA343382

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39060
• ClinVar RCV Id: RCV000032325
• dbSNP Id: rs281865002
• MyVariant Identifiers: chr12:g.102155480T>G (hg19) ; chr12:g.101761702T>G (hg38)
• PubMed: PMID:19634183 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761702T>G , CM000674.2:g.101761702T>G	GRCh38
NC_000012.11:g.102155480T>G , CM000674.1:g.102155480T>G	GRCh37
NC_000012.10:g.100679611T>G	NCBI36
NG_021243.1:g.74166A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2777A>C MANE Select	ENSP00000299314.7:p.Gln926Pro
ENST00000299314.11:c.2777A>C	ENSP00000299314.7:p.Gln926Pro
NM_024312.4:c.2777A>C	NP_077288.2:p.Gln926Pro
XM_006719593.2:c.2777A>C	XP_006719656.1:p.Gln926Pro
XM_011538731.1:c.2696A>C	XP_011537033.1:p.Gln899Pro
XM_006719593.3:c.2777A>C	XP_006719656.1:p.Gln926Pro
XM_011538731.2:c.2696A>C	XP_011537033.1:p.Gln899Pro
XM_017019961.1:c.2561A>C	XP_016875450.1:p.Gln854Pro
XM_017019962.2:c.1550A>C	XP_016875451.1:p.Gln517Pro
NM_024312.5:c.2777A>C MANE Select	NP_077288.2:p.Gln926Pro