Canonical Allele Identifier: CA343387

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761201G>A , CM000674.2:g.101761201G>A	GRCh38
NC_000012.11:g.102154979G>A , CM000674.1:g.102154979G>A	GRCh37
NC_000012.10:g.100679110G>A	NCBI36
NG_021243.1:g.74667C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3061C>T MANE Select	NP_077288.2:p.Gln1021Ter
ENST00000299314.12:c.3061C>T MANE Select	ENSP00000299314.7:p.Gln1021Ter
NM_024312.4:c.3061C>T	NP_077288.2:p.Gln1021Ter
ENST00000299314.11:c.3061C>T	ENSP00000299314.7:p.Gln1021Ter
XM_006719593.2:c.3061C>T	XP_006719656.1:p.Gln1021Ter
XM_006719593.3:c.3061C>T	XP_006719656.1:p.Gln1021Ter
XM_011538731.1:c.2980C>T	XP_011537033.1:p.Gln994Ter
XM_011538731.2:c.2980C>T	XP_011537033.1:p.Gln994Ter
XM_017019961.1:c.2845C>T	XP_016875450.1:p.Gln949Ter
XM_017019962.2:c.1834C>T	XP_016875451.1:p.Gln612Ter