Canonical Allele Identifier: CA386301021

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101766094G>A , CM000674.2:g.101766094G>A	GRCh38
NC_000012.11:g.102159872G>A , CM000674.1:g.102159872G>A	GRCh37
NC_000012.10:g.100684003G>A	NCBI36
NG_021243.1:g.69774C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1609C>T MANE Select	NP_077288.2:p.Gln537Ter
ENST00000299314.12:c.1609C>T MANE Select	ENSP00000299314.7:p.Gln537Ter
NM_024312.4:c.1609C>T	NP_077288.2:p.Gln537Ter
ENST00000299314.11:c.1609C>T	ENSP00000299314.7:p.Gln537Ter
ENST00000552009.1:n.268C>T
XM_006719593.2:c.1609C>T	XP_006719656.1:p.Gln537Ter
XM_006719593.3:c.1609C>T	XP_006719656.1:p.Gln537Ter
XM_011538731.1:c.1528C>T	XP_011537033.1:p.Gln510Ter
XM_011538731.2:c.1528C>T	XP_011537033.1:p.Gln510Ter
XM_017019961.1:c.1393C>T	XP_016875450.1:p.Gln465Ter
XM_017019962.2:c.382C>T	XP_016875451.1:p.Gln128Ter