Canonical Allele Identifier: CA386303779

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101771158C>A , CM000674.2:g.101771158C>A	GRCh38
NC_000012.11:g.102164936C>A , CM000674.1:g.102164936C>A	GRCh37
NC_000012.10:g.100689067C>A	NCBI36
NG_021243.1:g.64710G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.772-1G>T MANE Select	NP_077288.2:n.772-1G>T
ENST00000299314.12:c.772-1G>T MANE Select	ENSP00000299314.7:n.772-1G>T
NM_024312.4:c.772-1G>T	NP_077288.2:n.772-1G>T
ENST00000299314.11:c.772-1G>T	ENSP00000299314.7:n.772-1G>T
ENST00000549940.5:c.772-1G>T	ENSP00000449150.1:n.772-1G>T
XM_006719593.2:c.772-1G>T	XP_006719656.1:n.772-1G>T
XM_006719593.3:c.772-1G>T	XP_006719656.1:n.772-1G>T
XM_011538731.1:c.691-1G>T	XP_011537033.1:n.691-1G>T
XM_011538731.2:c.691-1G>T	XP_011537033.1:n.691-1G>T
XM_017019961.1:c.556-1G>T	XP_016875450.1:n.556-1G>T
XM_017019962.2:c.-579-1G>T	XP_016875451.1:n.-579-1G>T