Canonical Allele Identifier: CA242462233

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1387230
• ClinVar RCV Id: RCV001881842
• dbSNP Id: rs947905285
• MyVariant Identifiers: chr12:g.102163874A>C (hg19) ; chr12:g.101770096A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770096A>C , CM000674.2:g.101770096A>C	GRCh38
NC_000012.11:g.102163874A>C , CM000674.1:g.102163874A>C	GRCh37
NC_000012.10:g.100688005A>C	NCBI36
NG_021243.1:g.65772T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1209T>G MANE Select	ENSP00000299314.7:p.Ile403Met
ENST00000299314.11:c.1209T>G	ENSP00000299314.7:p.Ile403Met
ENST00000549940.5:c.1209T>G	ENSP00000449150.1:p.Ile403Met
NM_024312.4:c.1209T>G	NP_077288.2:p.Ile403Met
XM_006719593.2:c.1209T>G	XP_006719656.1:p.Ile403Met
XM_011538731.1:c.1128T>G	XP_011537033.1:p.Ile376Met
XM_006719593.3:c.1209T>G	XP_006719656.1:p.Ile403Met
XM_011538731.2:c.1128T>G	XP_011537033.1:p.Ile376Met
XM_017019961.1:c.993T>G	XP_016875450.1:p.Ile331Met
XM_017019962.2:c.-19T>G	XP_016875451.1:n.-19T>G
NM_024312.5:c.1209T>G MANE Select	NP_077288.2:p.Ile403Met