Canonical Allele Identifier: CA386299224

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158696C>T (hg19) ; chr12:g.101764918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764918C>T , CM000674.2:g.101764918C>T	GRCh38
NC_000012.11:g.102158696C>T , CM000674.1:g.102158696C>T	GRCh37
NC_000012.10:g.100682827C>T	NCBI36
NG_021243.1:g.70950G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1999G>A MANE Select	ENSP00000299314.7:p.Glu667Lys
ENST00000299314.11:c.1999G>A	ENSP00000299314.7:p.Glu667Lys
NM_024312.4:c.1999G>A	NP_077288.2:p.Glu667Lys
XM_006719593.2:c.1999G>A	XP_006719656.1:p.Glu667Lys
XM_011538731.1:c.1918G>A	XP_011537033.1:p.Glu640Lys
XM_006719593.3:c.1999G>A	XP_006719656.1:p.Glu667Lys
XM_011538731.2:c.1918G>A	XP_011537033.1:p.Glu640Lys
XM_017019961.1:c.1783G>A	XP_016875450.1:p.Glu595Lys
XM_017019962.2:c.772G>A	XP_016875451.1:p.Glu258Lys
NM_024312.5:c.1999G>A MANE Select	NP_077288.2:p.Glu667Lys