Canonical Allele Identifier: CA912973306

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102164276dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770498dup , CM000674.2:g.101770498dup	GRCh38
NC_000012.11:g.102164276dup , CM000674.1:g.102164276dup	GRCh37
NC_000012.10:g.100688407dup	NCBI36
NG_021243.1:g.65371dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1022dup MANE Select	ENSP00000299314.7:p.Trp342MetfsTer20
ENST00000299314.11:c.1022dup	ENSP00000299314.7:p.Trp342MetfsTer20
ENST00000549940.5:c.1022dup	ENSP00000449150.1:p.Trp342MetfsTer20
NM_024312.4:c.1022dup	NP_077288.2:p.Trp342MetfsTer20
XM_006719593.2:c.1022dup	XP_006719656.1:p.Trp342MetfsTer20
XM_011538731.1:c.941dup	XP_011537033.1:p.Trp315MetfsTer20
XM_006719593.3:c.1022dup	XP_006719656.1:p.Trp342MetfsTer20
XM_011538731.2:c.941dup	XP_011537033.1:p.Trp315MetfsTer20
XM_017019961.1:c.806dup	XP_016875450.1:p.Trp270MetfsTer20
XM_017019962.2:c.-206dup	XP_016875451.1:n.-206dup
NM_024312.5:c.1022dup MANE Select	NP_077288.2:p.Trp342MetfsTer20