Canonical Allele Identifier: CA2575265201

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786269C>T , CM000674.2:g.101786269C>T	GRCh38
NC_000012.11:g.102180047C>T , CM000674.1:g.102180047C>T	GRCh37
NC_000012.10:g.100704178C>T	NCBI36
NG_021243.1:g.49599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.366-52G>A MANE Select	ENSP00000299314.7:n.366-52G>A
ENST00000299314.11:c.366-52G>A	ENSP00000299314.7:n.366-52G>A
ENST00000549940.5:c.366-52G>A	ENSP00000449150.1:n.366-52G>A
ENST00000550352.1:n.160-52G>A
NM_024312.4:c.366-52G>A	NP_077288.2:n.366-52G>A
XM_006719593.2:c.366-52G>A	XP_006719656.1:n.366-52G>A
XM_011538731.1:c.285-52G>A	XP_011537033.1:n.285-52G>A
XM_006719593.3:c.366-52G>A	XP_006719656.1:n.366-52G>A
XM_011538731.2:c.285-52G>A	XP_011537033.1:n.285-52G>A
XM_017019961.1:c.150-52G>A	XP_016875450.1:n.150-52G>A
XM_017019962.2:c.-985-52G>A	XP_016875451.1:n.-985-52G>A
NM_024312.5:c.366-52G>A MANE Select	NP_077288.2:n.366-52G>A