Canonical Allele Identifier: CA386305325

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101789937C>T , CM000674.2:g.101789937C>T	GRCh38
NC_000012.11:g.102183715C>T , CM000674.1:g.102183715C>T	GRCh37
NC_000012.10:g.100707846C>T	NCBI36
NG_021243.1:g.45931G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.323+1G>A MANE Select	NP_077288.2:n.323+1G>A
ENST00000299314.12:c.323+1G>A MANE Select	ENSP00000299314.7:n.323+1G>A
NM_024312.4:c.323+1G>A	NP_077288.2:n.323+1G>A
ENST00000299314.11:c.323+1G>A	ENSP00000299314.7:n.323+1G>A
ENST00000549940.5:c.323+1G>A	ENSP00000449150.1:n.323+1G>A
ENST00000550352.1:n.117+1G>A
XM_006719593.2:c.323+1G>A	XP_006719656.1:n.323+1G>A
XM_006719593.3:c.323+1G>A	XP_006719656.1:n.323+1G>A
XM_011538731.1:c.242+1G>A	XP_011537033.1:n.242+1G>A
XM_011538731.2:c.242+1G>A	XP_011537033.1:n.242+1G>A
XM_017019961.1:c.107+1G>A	XP_016875450.1:n.107+1G>A
XM_017019962.2:c.-1028+1G>A	XP_016875451.1:n.-1028+1G>A