Canonical Allele Identifier: CA386305319

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101788591T>C , CM000674.2:g.101788591T>C	GRCh38
NC_000012.11:g.102182369T>C , CM000674.1:g.102182369T>C	GRCh37
NC_000012.10:g.100706500T>C	NCBI36
NG_021243.1:g.47277A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.324-2A>G MANE Select	NP_077288.2:n.324-2A>G
ENST00000299314.12:c.324-2A>G MANE Select	ENSP00000299314.7:n.324-2A>G
NM_024312.4:c.324-2A>G	NP_077288.2:n.324-2A>G
ENST00000299314.11:c.324-2A>G	ENSP00000299314.7:n.324-2A>G
ENST00000549940.5:c.324-2A>G	ENSP00000449150.1:n.324-2A>G
ENST00000550352.1:n.118-2A>G
XM_006719593.2:c.324-2A>G	XP_006719656.1:n.324-2A>G
XM_006719593.3:c.324-2A>G	XP_006719656.1:n.324-2A>G
XM_011538731.1:c.243-2A>G	XP_011537033.1:n.243-2A>G
XM_011538731.2:c.243-2A>G	XP_011537033.1:n.243-2A>G
XM_017019961.1:c.108-2A>G	XP_016875450.1:n.108-2A>G
XM_017019962.2:c.-1027-2A>G	XP_016875451.1:n.-1027-2A>G