Canonical Allele Identifier: CA386305429

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101789981G>A , CM000674.2:g.101789981G>A	GRCh38
NC_000012.11:g.102183759G>A , CM000674.1:g.102183759G>A	GRCh37
NC_000012.10:g.100707890G>A	NCBI36
NG_021243.1:g.45887C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.280C>T MANE Select	NP_077288.2:p.Gln94Ter
ENST00000299314.12:c.280C>T MANE Select	ENSP00000299314.7:p.Gln94Ter
NM_024312.4:c.280C>T	NP_077288.2:p.Gln94Ter
ENST00000299314.11:c.280C>T	ENSP00000299314.7:p.Gln94Ter
ENST00000549940.5:c.280C>T	ENSP00000449150.1:p.Gln94Ter
ENST00000550352.1:n.74C>T
XM_006719593.2:c.280C>T	XP_006719656.1:p.Gln94Ter
XM_006719593.3:c.280C>T	XP_006719656.1:p.Gln94Ter
XM_011538731.1:c.199C>T	XP_011537033.1:p.Gln67Ter
XM_011538731.2:c.199C>T	XP_011537033.1:p.Gln67Ter
XM_017019961.1:c.64C>T	XP_016875450.1:p.Gln22Ter
XM_017019962.2:c.-1071C>T	XP_016875451.1:n.-1071C>T