Canonical Allele Identifier: CA386294809
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101760103T>C , CM000674.2:g.101760103T>C GRCh38
NC_000012.11:g.102153881T>C , CM000674.1:g.102153881T>C GRCh37
NC_000012.10:g.100678012T>C NCBI36
NG_021243.1:g.75765A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3176A>G MANE Select ENSP00000299314.7:p.Lys1059Arg
ENST00000299314.11:c.3176A>G ENSP00000299314.7:p.Lys1059Arg
ENST00000549194.1:n.42A>G
NM_024312.4:c.3176A>G NP_077288.2:p.Lys1059Arg
XM_006719593.2:c.3176A>G XP_006719656.1:p.Lys1059Arg
XM_011538731.1:c.3095A>G XP_011537033.1:p.Lys1032Arg
XM_006719593.3:c.3176A>G XP_006719656.1:p.Lys1059Arg
XM_011538731.2:c.3095A>G XP_011537033.1:p.Lys1032Arg
XM_017019961.1:c.2960A>G XP_016875450.1:p.Lys987Arg
XM_017019962.2:c.1949A>G XP_016875451.1:p.Lys650Arg
NM_024312.5:c.3176A>G MANE Select NP_077288.2:p.Lys1059Arg