Canonical Allele Identifier: CA386292119

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753376C>G , CM000674.2:g.101753376C>G	GRCh38
NC_000012.11:g.102147154C>G , CM000674.1:g.102147154C>G	GRCh37
NC_000012.10:g.100671285C>G	NCBI36
NG_021243.1:g.82492G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3598G>C MANE Select	NP_077288.2:p.Glu1200Gln
ENST00000299314.12:c.3598G>C MANE Select	ENSP00000299314.7:p.Glu1200Gln
NM_024312.4:c.3598G>C	NP_077288.2:p.Glu1200Gln
ENST00000299314.11:c.3598G>C	ENSP00000299314.7:p.Glu1200Gln
ENST00000549738.5:c.496G>C	ENSP00000450161.1:n.496G>C
XM_011538731.1:c.3517G>C	XP_011537033.1:p.Glu1173Gln
XM_011538731.2:c.3517G>C	XP_011537033.1:p.Glu1173Gln
XM_017019961.1:c.3382G>C	XP_016875450.1:p.Glu1128Gln
XM_017019962.2:c.2371G>C	XP_016875451.1:p.Glu791Gln