Canonical Allele Identifier: CA6746522

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101765091G>T , CM000674.2:g.101765091G>T	GRCh38
NC_000012.11:g.102158869G>T , CM000674.1:g.102158869G>T	GRCh37
NC_000012.10:g.100683000G>T	NCBI36
NG_021243.1:g.70777C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1826C>A MANE Select	NP_077288.2:p.Thr609Asn
ENST00000299314.12:c.1826C>A MANE Select	ENSP00000299314.7:p.Thr609Asn
NM_024312.4:c.1826C>A	NP_077288.2:p.Thr609Asn
ENST00000299314.11:c.1826C>A	ENSP00000299314.7:p.Thr609Asn
XM_006719593.2:c.1826C>A	XP_006719656.1:p.Thr609Asn
XM_006719593.3:c.1826C>A	XP_006719656.1:p.Thr609Asn
XM_011538731.1:c.1745C>A	XP_011537033.1:p.Thr582Asn
XM_011538731.2:c.1745C>A	XP_011537033.1:p.Thr582Asn
XM_017019961.1:c.1610C>A	XP_016875450.1:p.Thr537Asn
XM_017019962.2:c.599C>A	XP_016875451.1:p.Thr200Asn