Canonical Allele Identifier: CA386304892

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179847T>A (hg19) ; chr12:g.101786069T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786069T>A , CM000674.2:g.101786069T>A	GRCh38
NC_000012.11:g.102179847T>A , CM000674.1:g.102179847T>A	GRCh37
NC_000012.10:g.100703978T>A	NCBI36
NG_021243.1:g.49799A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.514A>T MANE Select	ENSP00000299314.7:p.Lys172Ter
ENST00000299314.11:c.514A>T	ENSP00000299314.7:p.Lys172Ter
ENST00000549940.5:c.514A>T	ENSP00000449150.1:p.Lys172Ter
ENST00000550352.1:n.308A>T
ENST00000552681.1:c.148A>T	ENSP00000449217.1:p.Lys50Ter
NM_024312.4:c.514A>T	NP_077288.2:p.Lys172Ter
XM_006719593.2:c.514A>T	XP_006719656.1:p.Lys172Ter
XM_011538731.1:c.433A>T	XP_011537033.1:p.Lys145Ter
XM_006719593.3:c.514A>T	XP_006719656.1:p.Lys172Ter
XM_011538731.2:c.433A>T	XP_011537033.1:p.Lys145Ter
XM_017019961.1:c.298A>T	XP_016875450.1:p.Lys100Ter
XM_017019962.2:c.-837A>T	XP_016875451.1:n.-837A>T
NM_024312.5:c.514A>T MANE Select	NP_077288.2:p.Lys172Ter