Canonical Allele Identifier: CA386305358

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101789951G>C , CM000674.2:g.101789951G>C	GRCh38
NC_000012.11:g.102183729G>C , CM000674.1:g.102183729G>C	GRCh37
NC_000012.10:g.100707860G>C	NCBI36
NG_021243.1:g.45917C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.310C>G MANE Select	NP_077288.2:p.Gln104Glu
ENST00000299314.12:c.310C>G MANE Select	ENSP00000299314.7:p.Gln104Glu
NM_024312.4:c.310C>G	NP_077288.2:p.Gln104Glu
ENST00000299314.11:c.310C>G	ENSP00000299314.7:p.Gln104Glu
ENST00000549940.5:c.310C>G	ENSP00000449150.1:p.Gln104Glu
ENST00000550352.1:n.104C>G
XM_006719593.2:c.310C>G	XP_006719656.1:p.Gln104Glu
XM_006719593.3:c.310C>G	XP_006719656.1:p.Gln104Glu
XM_011538731.1:c.229C>G	XP_011537033.1:p.Gln77Glu
XM_011538731.2:c.229C>G	XP_011537033.1:p.Gln77Glu
XM_017019961.1:c.94C>G	XP_016875450.1:p.Gln32Glu
XM_017019962.2:c.-1041C>G	XP_016875451.1:n.-1041C>G