Canonical Allele Identifier: CA386292543
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753472G>A , CM000674.2:g.101753472G>A GRCh38
NC_000012.11:g.102147250G>A , CM000674.1:g.102147250G>A GRCh37
NC_000012.10:g.100671381G>A NCBI36
NG_021243.1:g.82396C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3502C>T MANE Select ENSP00000299314.7:p.Leu1168Phe
ENST00000299314.11:c.3502C>T ENSP00000299314.7:p.Leu1168Phe
ENST00000549738.5:c.400C>T ENSP00000450161.1:n.400C>T
NM_024312.4:c.3502C>T NP_077288.2:p.Leu1168Phe
XM_011538731.1:c.3421C>T XP_011537033.1:p.Leu1141Phe
XM_011538731.2:c.3421C>T XP_011537033.1:p.Leu1141Phe
XM_017019961.1:c.3286C>T XP_016875450.1:p.Leu1096Phe
XM_017019962.2:c.2275C>T XP_016875451.1:p.Leu759Phe
NM_024312.5:c.3502C>T MANE Select NP_077288.2:p.Leu1168Phe