Canonical Allele Identifier: CA242456834
Gene: GNPTAB HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.101764932G>A
GRCh37 chr12:g.102158710G>A
Revel Score:
ENST00000299314 (MANE Select) 0.167
gnomAD v2:
12:102158710 G / A
gnomAD v3:
12:101764932 G / A
gnomAD v4:
chr12-101764932-G-A
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000669409
ClinVar Variation:
553877
dbSNP:
142172397
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764932G>A , CM000674.2:g.101764932G>A GRCh38
NC_000012.11:g.102158710G>A , CM000674.1:g.102158710G>A GRCh37
NC_000012.10:g.100682841G>A NCBI36
NG_021243.1:g.70936C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1985C>T MANE Select ENSP00000299314.7:p.Ala662Val
ENST00000299314.11:c.1985C>T ENSP00000299314.7:p.Ala662Val
NM_024312.4:c.1985C>T NP_077288.2:p.Ala662Val
XM_006719593.2:c.1985C>T XP_006719656.1:p.Ala662Val
XM_011538731.1:c.1904C>T XP_011537033.1:p.Ala635Val
XM_006719593.3:c.1985C>T XP_006719656.1:p.Ala662Val
XM_011538731.2:c.1904C>T XP_011537033.1:p.Ala635Val
XM_017019961.1:c.1769C>T XP_016875450.1:p.Ala590Val
XM_017019962.2:c.758C>T XP_016875451.1:p.Ala253Val
NM_024312.5:c.1985C>T MANE Select NP_077288.2:p.Ala662Val
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