Canonical Allele Identifier: CA6746472
Gene: GNPTAB HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.101764798C>T
GRCh37 chr12:g.102158576C>T
Revel Score:
ENST00000299314 (MANE Select) 0.029
gnomAD v2:
12:102158576 C / T
gnomAD v3:
12:101764798 C / T
gnomAD v4:
chr12-101764798-C-T
Joint Max Group AF 0.00021758 (SAS)
Genomes Max Group AF 0.00028321 (SAS)
Exomes Max Group AF 0.00019167 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764798C>T , CM000674.2:g.101764798C>T GRCh38
NC_000012.11:g.102158576C>T , CM000674.1:g.102158576C>T GRCh37
NC_000012.10:g.100682707C>T NCBI36
NG_021243.1:g.71070G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2119G>A MANE Select ENSP00000299314.7:p.Ala707Thr
ENST00000299314.11:c.2119G>A ENSP00000299314.7:p.Ala707Thr
NM_024312.4:c.2119G>A NP_077288.2:p.Ala707Thr
XM_006719593.2:c.2119G>A XP_006719656.1:p.Ala707Thr
XM_011538731.1:c.2038G>A XP_011537033.1:p.Ala680Thr
XM_006719593.3:c.2119G>A XP_006719656.1:p.Ala707Thr
XM_011538731.2:c.2038G>A XP_011537033.1:p.Ala680Thr
XM_017019961.1:c.1903G>A XP_016875450.1:p.Ala635Thr
XM_017019962.2:c.892G>A XP_016875451.1:p.Ala298Thr
NM_024312.5:c.2119G>A MANE Select NP_077288.2:p.Ala707Thr
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