Canonical Allele Identifier: CA2695217213

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770503dup , CM000674.2:g.101770503dup	GRCh38
NC_000012.11:g.102164281dup , CM000674.1:g.102164281dup	GRCh37
NC_000012.10:g.100688412dup	NCBI36
NG_021243.1:g.65365dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1016dup MANE Select	ENSP00000299314.7:p.His339GlnfsTer23
ENST00000299314.11:c.1016dup	ENSP00000299314.7:p.His339GlnfsTer23
ENST00000549940.5:c.1016dup	ENSP00000449150.1:p.His339GlnfsTer23
NM_024312.4:c.1016dup	NP_077288.2:p.His339GlnfsTer23
XM_006719593.2:c.1016dup	XP_006719656.1:p.His339GlnfsTer23
XM_011538731.1:c.935dup	XP_011537033.1:p.His312GlnfsTer23
XM_006719593.3:c.1016dup	XP_006719656.1:p.His339GlnfsTer23
XM_011538731.2:c.935dup	XP_011537033.1:p.His312GlnfsTer23
XM_017019961.1:c.800dup	XP_016875450.1:p.His267GlnfsTer23
XM_017019962.2:c.-212dup	XP_016875451.1:n.-212dup
NM_024312.5:c.1016dup MANE Select	NP_077288.2:p.His339GlnfsTer23