Canonical Allele Identifier: CA6747031
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 2151371
ClinVar RCV Id: RCV003061306 RCV003274205 RCV003481383
dbSNP Id: rs573282230
ExAC: 12:102224445 G / C
gnomAD v2: 12-102224445-G-C
gnomAD v3: 12-101830667-G-C
gnomAD v4: 12-101830667-G-C
MyVariant Identifiers: chr12:g.102224445G>C (hg19) chr12:g.101830667G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830667G>C , CM000674.2:g.101830667G>C GRCh38
NC_000012.11:g.102224445G>C , CM000674.1:g.102224445G>C GRCh37
NC_000012.10:g.100748576G>C NCBI36
NG_021243.1:g.5201C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.9C>G MANE Select ENSP00000299314.7:p.Phe3Leu
ENST00000299314.11:c.9C>G ENSP00000299314.7:p.Phe3Leu
ENST00000392919.4:c.9C>G ENSP00000376651.4:p.Phe3Leu
ENST00000549165.1:c.9C>G ENSP00000450413.1:p.Phe3Leu
ENST00000549940.5:c.9C>G ENSP00000449150.1:p.Phe3Leu
NM_024312.4:c.9C>G NP_077288.2:p.Phe3Leu
XM_006719593.2:c.9C>G XP_006719656.1:p.Phe3Leu
XM_006719593.3:c.9C>G XP_006719656.1:p.Phe3Leu
XM_017019961.1:c.-141C>G XP_016875450.1:n.-141C>G
XM_017019962.2:c.-1342C>G XP_016875451.1:n.-1342C>G
NM_024312.5:c.9C>G MANE Select NP_077288.2:p.Phe3Leu
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