Canonical Allele Identifier: CA386299313

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764962A>C , CM000674.2:g.101764962A>C	GRCh38
NC_000012.11:g.102158740A>C , CM000674.1:g.102158740A>C	GRCh37
NC_000012.10:g.100682871A>C	NCBI36
NG_021243.1:g.70906T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1955T>G MANE Select	NP_077288.2:p.Leu652Ter
ENST00000299314.12:c.1955T>G MANE Select	ENSP00000299314.7:p.Leu652Ter
NM_024312.4:c.1955T>G	NP_077288.2:p.Leu652Ter
ENST00000299314.11:c.1955T>G	ENSP00000299314.7:p.Leu652Ter
XM_006719593.2:c.1955T>G	XP_006719656.1:p.Leu652Ter
XM_006719593.3:c.1955T>G	XP_006719656.1:p.Leu652Ter
XM_011538731.1:c.1874T>G	XP_011537033.1:p.Leu625Ter
XM_011538731.2:c.1874T>G	XP_011537033.1:p.Leu625Ter
XM_017019961.1:c.1739T>G	XP_016875450.1:p.Leu580Ter
XM_017019962.2:c.728T>G	XP_016875451.1:p.Leu243Ter