Canonical Allele Identifier: CA386299010

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158602A>T (hg19) ; chr12:g.101764824A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764824A>T , CM000674.2:g.101764824A>T	GRCh38
NC_000012.11:g.102158602A>T , CM000674.1:g.102158602A>T	GRCh37
NC_000012.10:g.100682733A>T	NCBI36
NG_021243.1:g.71044T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2093T>A MANE Select	ENSP00000299314.7:p.Val698Glu
ENST00000299314.11:c.2093T>A	ENSP00000299314.7:p.Val698Glu
NM_024312.4:c.2093T>A	NP_077288.2:p.Val698Glu
XM_006719593.2:c.2093T>A	XP_006719656.1:p.Val698Glu
XM_011538731.1:c.2012T>A	XP_011537033.1:p.Val671Glu
XM_006719593.3:c.2093T>A	XP_006719656.1:p.Val698Glu
XM_011538731.2:c.2012T>A	XP_011537033.1:p.Val671Glu
XM_017019961.1:c.1877T>A	XP_016875450.1:p.Val626Glu
XM_017019962.2:c.866T>A	XP_016875451.1:p.Val289Glu
NM_024312.5:c.2093T>A MANE Select	NP_077288.2:p.Val698Glu