Canonical Allele Identifier: CA386294711

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760080G>A , CM000674.2:g.101760080G>A	GRCh38
NC_000012.11:g.102153858G>A , CM000674.1:g.102153858G>A	GRCh37
NC_000012.10:g.100677989G>A	NCBI36
NG_021243.1:g.75788C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3199C>T MANE Select	NP_077288.2:p.Gln1067Ter
ENST00000299314.12:c.3199C>T MANE Select	ENSP00000299314.7:p.Gln1067Ter
NM_024312.4:c.3199C>T	NP_077288.2:p.Gln1067Ter
ENST00000299314.11:c.3199C>T	ENSP00000299314.7:p.Gln1067Ter
ENST00000549194.1:n.65C>T
ENST00000550718.1:c.11C>T
XM_006719593.2:c.3199C>T	XP_006719656.1:p.Gln1067Ter
XM_006719593.3:c.3199C>T	XP_006719656.1:p.Gln1067Ter
XM_011538731.1:c.3118C>T	XP_011537033.1:p.Gln1040Ter
XM_011538731.2:c.3118C>T	XP_011537033.1:p.Gln1040Ter
XM_017019961.1:c.2983C>T	XP_016875450.1:p.Gln995Ter
XM_017019962.2:c.1972C>T	XP_016875451.1:p.Gln658Ter