Canonical Allele Identifier: CA6746683
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs766504531

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770101A>G , CM000674.2:g.101770101A>G GRCh38
NC_000012.11:g.102163879A>G , CM000674.1:g.102163879A>G GRCh37
NC_000012.10:g.100688010A>G NCBI36
NG_021243.1:g.65767T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1204T>C MANE Select ENSP00000299314.7:p.Phe402Leu
ENST00000299314.11:c.1204T>C ENSP00000299314.7:p.Phe402Leu
ENST00000549940.5:c.1204T>C ENSP00000449150.1:p.Phe402Leu
NM_024312.4:c.1204T>C NP_077288.2:p.Phe402Leu
XM_006719593.2:c.1204T>C XP_006719656.1:p.Phe402Leu
XM_011538731.1:c.1123T>C XP_011537033.1:p.Phe375Leu
XM_006719593.3:c.1204T>C XP_006719656.1:p.Phe402Leu
XM_011538731.2:c.1123T>C XP_011537033.1:p.Phe375Leu
XM_017019961.1:c.988T>C XP_016875450.1:p.Phe330Leu
XM_017019962.2:c.-24T>C XP_016875451.1:n.-24T>C
NM_024312.5:c.1204T>C MANE Select NP_077288.2:p.Phe402Leu