Canonical Allele Identifier: CA386304616

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101780556C>T , CM000674.2:g.101780556C>T	GRCh38
NC_000012.11:g.102174334C>T , CM000674.1:g.102174334C>T	GRCh37
NC_000012.10:g.100698465C>T	NCBI36
NG_021243.1:g.55312G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.636+1G>A MANE Select	NP_077288.2:n.636+1G>A
ENST00000299314.12:c.636+1G>A MANE Select	ENSP00000299314.7:n.636+1G>A
NM_024312.4:c.636+1G>A	NP_077288.2:n.636+1G>A
ENST00000299314.11:c.636+1G>A	ENSP00000299314.7:n.636+1G>A
ENST00000549940.5:c.636+1G>A	ENSP00000449150.1:n.636+1G>A
ENST00000552681.1:c.270+1G>A	ENSP00000449217.1:n.270+1G>A
XM_006719593.2:c.636+1G>A	XP_006719656.1:n.636+1G>A
XM_006719593.3:c.636+1G>A	XP_006719656.1:n.636+1G>A
XM_011538731.1:c.555+1G>A	XP_011537033.1:n.555+1G>A
XM_011538731.2:c.555+1G>A	XP_011537033.1:n.555+1G>A
XM_017019961.1:c.420+1G>A	XP_016875450.1:n.420+1G>A
XM_017019962.2:c.-715+1G>A	XP_016875451.1:n.-715+1G>A