Canonical Allele Identifier: CA6746124
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs369510134
ExAC: 12:102147224 G / T
gnomAD v2: 12-102147224-G-T
gnomAD v3: 12-101753446-G-T
gnomAD v4: 12-101753446-G-T
MyVariant Identifiers: chr12:g.102147224G>T (hg19) chr12:g.101753446G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753446G>T , CM000674.2:g.101753446G>T GRCh38
NC_000012.11:g.102147224G>T , CM000674.1:g.102147224G>T GRCh37
NC_000012.10:g.100671355G>T NCBI36
NG_021243.1:g.82422C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3528C>A MANE Select ENSP00000299314.7:p.Phe1176Leu
ENST00000299314.11:c.3528C>A ENSP00000299314.7:p.Phe1176Leu
ENST00000549738.5:c.426C>A ENSP00000450161.1:n.426C>A
NM_024312.4:c.3528C>A NP_077288.2:p.Phe1176Leu
XM_011538731.1:c.3447C>A XP_011537033.1:p.Phe1149Leu
XM_011538731.2:c.3447C>A XP_011537033.1:p.Phe1149Leu
XM_017019961.1:c.3312C>A XP_016875450.1:p.Phe1104Leu
XM_017019962.2:c.2301C>A XP_016875451.1:p.Phe767Leu
NM_024312.5:c.3528C>A MANE Select NP_077288.2:p.Phe1176Leu
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