Canonical Allele Identifier: CA386302978

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770429G>C , CM000674.2:g.101770429G>C	GRCh38
NC_000012.11:g.102164207G>C , CM000674.1:g.102164207G>C	GRCh37
NC_000012.10:g.100688338G>C	NCBI36
NG_021243.1:g.65439C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1090C>G MANE Select	NP_077288.2:p.Arg364Gly
ENST00000299314.12:c.1090C>G MANE Select	ENSP00000299314.7:p.Arg364Gly
NM_024312.4:c.1090C>G	NP_077288.2:p.Arg364Gly
ENST00000299314.11:c.1090C>G	ENSP00000299314.7:p.Arg364Gly
ENST00000549940.5:c.1090C>G	ENSP00000449150.1:p.Arg364Gly
XM_006719593.2:c.1090C>G	XP_006719656.1:p.Arg364Gly
XM_006719593.3:c.1090C>G	XP_006719656.1:p.Arg364Gly
XM_011538731.1:c.1009C>G	XP_011537033.1:p.Arg337Gly
XM_011538731.2:c.1009C>G	XP_011537033.1:p.Arg337Gly
XM_017019961.1:c.874C>G	XP_016875450.1:p.Arg292Gly
XM_017019962.2:c.-138C>G	XP_016875451.1:n.-138C>G