Canonical Allele Identifier: CA6746857
Gene: GNPTAB HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.101786012C>T
GRCh37 chr12:g.102179790C>T
Revel Score:
ENST00000299314 (MANE Select) 0.436
ENST00000549940 0.436
ENST00000552681 0.436
ClinVar RCV:
RCV000449605
ClinVar Variation:
397556
dbSNP:
751953529
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101786012C>T , CM000674.2:g.101786012C>T GRCh38
NC_000012.11:g.102179790C>T , CM000674.1:g.102179790C>T GRCh37
NC_000012.10:g.100703921C>T NCBI36
NG_021243.1:g.49856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.571G>A MANE Select ENSP00000299314.7:p.Val191Ile
ENST00000299314.11:c.571G>A ENSP00000299314.7:p.Val191Ile
ENST00000549940.5:c.571G>A ENSP00000449150.1:p.Val191Ile
ENST00000550352.1:n.365G>A
ENST00000552681.1:c.205G>A ENSP00000449217.1:p.Val69Ile
NM_024312.4:c.571G>A NP_077288.2:p.Val191Ile
XM_006719593.2:c.571G>A XP_006719656.1:p.Val191Ile
XM_011538731.1:c.490G>A XP_011537033.1:p.Val164Ile
XM_006719593.3:c.571G>A XP_006719656.1:p.Val191Ile
XM_011538731.2:c.490G>A XP_011537033.1:p.Val164Ile
XM_017019961.1:c.355G>A XP_016875450.1:p.Val119Ile
XM_017019962.2:c.-780G>A XP_016875451.1:n.-780G>A
NM_024312.5:c.571G>A MANE Select NP_077288.2:p.Val191Ile
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