Canonical Allele Identifier: CA481326263

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101786106-A-T
• MyVariant Identifiers: chr12:g.102179884A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786106A>T , CM000674.2:g.101786106A>T	GRCh38
NC_000012.11:g.102179884A>T , CM000674.1:g.102179884A>T	GRCh37
NC_000012.10:g.100704015A>T	NCBI36
NG_021243.1:g.49762T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.477T>A MANE Select	ENSP00000299314.7:p.Pro159=
ENST00000299314.11:c.477T>A	ENSP00000299314.7:p.Pro159=
ENST00000549940.5:c.477T>A	ENSP00000449150.1:p.Pro159=
ENST00000550352.1:n.271T>A
ENST00000552681.1:c.111T>A	ENSP00000449217.1:p.Pro37=
NM_024312.4:c.477T>A	NP_077288.2:p.Pro159=
XM_006719593.2:c.477T>A	XP_006719656.1:p.Pro159=
XM_011538731.1:c.396T>A	XP_011537033.1:p.Pro132=
XM_006719593.3:c.477T>A	XP_006719656.1:p.Pro159=
XM_011538731.2:c.396T>A	XP_011537033.1:p.Pro132=
XM_017019961.1:c.261T>A	XP_016875450.1:p.Pro87=
XM_017019962.2:c.-874T>A	XP_016875451.1:n.-874T>A
NM_024312.5:c.477T>A MANE Select	NP_077288.2:p.Pro159=