Canonical Allele Identifier: CA386305091
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101786168G>C , CM000674.2:g.101786168G>C GRCh38
NC_000012.11:g.102179946G>C , CM000674.1:g.102179946G>C GRCh37
NC_000012.10:g.100704077G>C NCBI36
NG_021243.1:g.49700C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.415C>G MANE Select ENSP00000299314.7:p.Leu139Val
ENST00000299314.11:c.415C>G ENSP00000299314.7:p.Leu139Val
ENST00000549940.5:c.415C>G ENSP00000449150.1:p.Leu139Val
ENST00000550352.1:n.209C>G
ENST00000552681.1:c.49C>G ENSP00000449217.1:p.Leu17Val
NM_024312.4:c.415C>G NP_077288.2:p.Leu139Val
XM_006719593.2:c.415C>G XP_006719656.1:p.Leu139Val
XM_011538731.1:c.334C>G XP_011537033.1:p.Leu112Val
XM_006719593.3:c.415C>G XP_006719656.1:p.Leu139Val
XM_011538731.2:c.334C>G XP_011537033.1:p.Leu112Val
XM_017019961.1:c.199C>G XP_016875450.1:p.Leu67Val
XM_017019962.2:c.-936C>G XP_016875451.1:n.-936C>G
NM_024312.5:c.415C>G MANE Select NP_077288.2:p.Leu139Val