Canonical Allele Identifier: CA386301470

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101766296T>C , CM000674.2:g.101766296T>C	GRCh38
NC_000012.11:g.102160074T>C , CM000674.1:g.102160074T>C	GRCh37
NC_000012.10:g.100684205T>C	NCBI36
NG_021243.1:g.69572A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1409-2A>G MANE Select	NP_077288.2:n.1409-2A>G
ENST00000299314.12:c.1409-2A>G MANE Select	ENSP00000299314.7:n.1409-2A>G
NM_024312.4:c.1409-2A>G	NP_077288.2:n.1409-2A>G
ENST00000299314.11:c.1409-2A>G	ENSP00000299314.7:n.1409-2A>G
ENST00000552009.1:n.68-2A>G
XM_006719593.2:c.1409-2A>G	XP_006719656.1:n.1409-2A>G
XM_006719593.3:c.1409-2A>G	XP_006719656.1:n.1409-2A>G
XM_011538731.1:c.1328-2A>G	XP_011537033.1:n.1328-2A>G
XM_011538731.2:c.1328-2A>G	XP_011537033.1:n.1328-2A>G
XM_017019961.1:c.1193-2A>G	XP_016875450.1:n.1193-2A>G
XM_017019962.2:c.182-2A>G	XP_016875451.1:n.182-2A>G