Canonical Allele Identifier: CA2797214280

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761769A>T , CM000674.2:g.101761769A>T	GRCh38
NC_000012.11:g.102155547A>T , CM000674.1:g.102155547A>T	GRCh37
NC_000012.10:g.100679678A>T	NCBI36
NG_021243.1:g.74099T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2716-6T>A MANE Select	ENSP00000299314.7:n.2716-6T>A
ENST00000299314.11:c.2716-6T>A	ENSP00000299314.7:n.2716-6T>A
NM_024312.4:c.2716-6T>A	NP_077288.2:n.2716-6T>A
XM_006719593.2:c.2716-6T>A	XP_006719656.1:n.2716-6T>A
XM_011538731.1:c.2635-6T>A	XP_011537033.1:n.2635-6T>A
XM_006719593.3:c.2716-6T>A	XP_006719656.1:n.2716-6T>A
XM_011538731.2:c.2635-6T>A	XP_011537033.1:n.2635-6T>A
XM_017019961.1:c.2500-6T>A	XP_016875450.1:n.2500-6T>A
XM_017019962.2:c.1489-6T>A	XP_016875451.1:n.1489-6T>A
NM_024312.5:c.2716-6T>A MANE Select	NP_077288.2:n.2716-6T>A