Canonical Allele Identifier: CA386296136
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761591C>A , CM000674.2:g.101761591C>A GRCh38
NC_000012.11:g.102155369C>A , CM000674.1:g.102155369C>A GRCh37
NC_000012.10:g.100679500C>A NCBI36
NG_021243.1:g.74277G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2888G>T MANE Select ENSP00000299314.7:p.Arg963Leu
ENST00000299314.11:c.2888G>T ENSP00000299314.7:p.Arg963Leu
NM_024312.4:c.2888G>T NP_077288.2:p.Arg963Leu
XM_006719593.2:c.2888G>T XP_006719656.1:p.Arg963Leu
XM_011538731.1:c.2807G>T XP_011537033.1:p.Arg936Leu
XM_006719593.3:c.2888G>T XP_006719656.1:p.Arg963Leu
XM_011538731.2:c.2807G>T XP_011537033.1:p.Arg936Leu
XM_017019961.1:c.2672G>T XP_016875450.1:p.Arg891Leu
XM_017019962.2:c.1661G>T XP_016875451.1:p.Arg554Leu
NM_024312.5:c.2888G>T MANE Select NP_077288.2:p.Arg963Leu