Canonical Allele Identifier: CA386302887
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770188C>G , CM000674.2:g.101770188C>G GRCh38
NC_000012.11:g.102163966C>G , CM000674.1:g.102163966C>G GRCh37
NC_000012.10:g.100688097C>G NCBI36
NG_021243.1:g.65680G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1117G>C MANE Select ENSP00000299314.7:p.Val373Leu
ENST00000299314.11:c.1117G>C ENSP00000299314.7:p.Val373Leu
ENST00000549940.5:c.1117G>C ENSP00000449150.1:p.Val373Leu
NM_024312.4:c.1117G>C NP_077288.2:p.Val373Leu
XM_006719593.2:c.1117G>C XP_006719656.1:p.Val373Leu
XM_011538731.1:c.1036G>C XP_011537033.1:p.Val346Leu
XM_006719593.3:c.1117G>C XP_006719656.1:p.Val373Leu
XM_011538731.2:c.1036G>C XP_011537033.1:p.Val346Leu
XM_017019961.1:c.901G>C XP_016875450.1:p.Val301Leu
XM_017019962.2:c.-111G>C XP_016875451.1:n.-111G>C
NM_024312.5:c.1117G>C MANE Select NP_077288.2:p.Val373Leu