Canonical Allele Identifier: CA242473622

Gene: GNPTAB

Linked Data

• dbSNP Id: rs372269757
• gnomAD v4: 12-101786304-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786311dup , CM000674.2:g.101786311dup	GRCh38
NC_000012.11:g.102180089dup , CM000674.1:g.102180089dup	GRCh37
NC_000012.10:g.100704220dup	NCBI36
NG_021243.1:g.49563dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.366-88dup MANE Select	ENSP00000299314.7:n.366-88dup
ENST00000299314.11:c.366-88dup	ENSP00000299314.7:n.366-88dup
ENST00000549940.5:c.366-88dup	ENSP00000449150.1:n.366-88dup
ENST00000550352.1:n.160-88dup
NM_024312.4:c.366-88dup	NP_077288.2:n.366-88dup
XM_006719593.2:c.366-88dup	XP_006719656.1:n.366-88dup
XM_011538731.1:c.285-88dup	XP_011537033.1:n.285-88dup
XM_006719593.3:c.366-88dup	XP_006719656.1:n.366-88dup
XM_011538731.2:c.285-88dup	XP_011537033.1:n.285-88dup
XM_017019961.1:c.150-88dup	XP_016875450.1:n.150-88dup
XM_017019962.2:c.-985-88dup	XP_016875451.1:n.-985-88dup
NM_024312.5:c.366-88dup MANE Select	NP_077288.2:n.366-88dup