Canonical Allele Identifier: CA386292579
Gene: GNPTAB HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.102147257C>G (hg19) chr12:g.101753479C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753479C>G , CM000674.2:g.101753479C>G GRCh38
NC_000012.11:g.102147257C>G , CM000674.1:g.102147257C>G GRCh37
NC_000012.10:g.100671388C>G NCBI36
NG_021243.1:g.82389G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3495G>C MANE Select ENSP00000299314.7:p.Lys1165Asn
ENST00000299314.11:c.3495G>C ENSP00000299314.7:p.Lys1165Asn
ENST00000549738.5:c.393G>C ENSP00000450161.1:n.393G>C
NM_024312.4:c.3495G>C NP_077288.2:p.Lys1165Asn
XM_011538731.1:c.3414G>C XP_011537033.1:p.Lys1138Asn
XM_011538731.2:c.3414G>C XP_011537033.1:p.Lys1138Asn
XM_017019961.1:c.3279G>C XP_016875450.1:p.Lys1093Asn
XM_017019962.2:c.2268G>C XP_016875451.1:p.Lys756Asn
NM_024312.5:c.3495G>C MANE Select NP_077288.2:p.Lys1165Asn
Search 100 bp 5'
Search 100 bp 3'