Canonical Allele Identifier: CA6746348
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1441558888
ExAC: 12:102155498 C / T
gnomAD v2: 12-102155498-C-T
gnomAD v4: 12-101761720-C-T
MyVariant Identifiers: chr12:g.102155498C>T (hg19) chr12:g.102155498_102155500delinsTTA (hg19) chr12:g.101761720C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761720C>T , CM000674.2:g.101761720C>T GRCh38
NC_000012.11:g.102155498C>T , CM000674.1:g.102155498C>T GRCh37
NC_000012.10:g.100679629C>T NCBI36
NG_021243.1:g.74148G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2759G>A MANE Select ENSP00000299314.7:p.Ser920Asn
ENST00000299314.11:c.2759G>A ENSP00000299314.7:p.Ser920Asn
NM_024312.4:c.2759G>A NP_077288.2:p.Ser920Asn
XM_006719593.2:c.2759G>A XP_006719656.1:p.Ser920Asn
XM_011538731.1:c.2678G>A XP_011537033.1:p.Ser893Asn
XM_006719593.3:c.2759G>A XP_006719656.1:p.Ser920Asn
XM_011538731.2:c.2678G>A XP_011537033.1:p.Ser893Asn
XM_017019961.1:c.2543G>A XP_016875450.1:p.Ser848Asn
XM_017019962.2:c.1532G>A XP_016875451.1:p.Ser511Asn
NM_024312.5:c.2759G>A MANE Select NP_077288.2:p.Ser920Asn
Search 100 bp 5'
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