Canonical Allele Identifier: CA386292717
Gene: GNPTAB HGNC NCBI

Linked Data

gnomAD v4: 12-101753504-T-C
MyVariant Identifiers: chr12:g.102147282T>C (hg19) chr12:g.101753504T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753504T>C , CM000674.2:g.101753504T>C GRCh38
NC_000012.11:g.102147282T>C , CM000674.1:g.102147282T>C GRCh37
NC_000012.10:g.100671413T>C NCBI36
NG_021243.1:g.82364A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3470A>G MANE Select ENSP00000299314.7:p.Asn1157Ser
ENST00000299314.11:c.3470A>G ENSP00000299314.7:p.Asn1157Ser
ENST00000549738.5:c.368A>G ENSP00000450161.1:n.368A>G
NM_024312.4:c.3470A>G NP_077288.2:p.Asn1157Ser
XM_011538731.1:c.3389A>G XP_011537033.1:p.Asn1130Ser
XM_011538731.2:c.3389A>G XP_011537033.1:p.Asn1130Ser
XM_017019961.1:c.3254A>G XP_016875450.1:p.Asn1085Ser
XM_017019962.2:c.2243A>G XP_016875451.1:p.Asn748Ser
NM_024312.5:c.3470A>G MANE Select NP_077288.2:p.Asn1157Ser
Search 100 bp 5'
Search 100 bp 3'