Canonical Allele Identifier: CA386296377

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155478G>T (hg19) ; chr12:g.101761700G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761700G>T , CM000674.2:g.101761700G>T	GRCh38
NC_000012.11:g.102155478G>T , CM000674.1:g.102155478G>T	GRCh37
NC_000012.10:g.100679609G>T	NCBI36
NG_021243.1:g.74168C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2779C>A MANE Select	ENSP00000299314.7:p.Leu927Ile
ENST00000299314.11:c.2779C>A	ENSP00000299314.7:p.Leu927Ile
NM_024312.4:c.2779C>A	NP_077288.2:p.Leu927Ile
XM_006719593.2:c.2779C>A	XP_006719656.1:p.Leu927Ile
XM_011538731.1:c.2698C>A	XP_011537033.1:p.Leu900Ile
XM_006719593.3:c.2779C>A	XP_006719656.1:p.Leu927Ile
XM_011538731.2:c.2698C>A	XP_011537033.1:p.Leu900Ile
XM_017019961.1:c.2563C>A	XP_016875450.1:p.Leu855Ile
XM_017019962.2:c.1552C>A	XP_016875451.1:p.Leu518Ile
NM_024312.5:c.2779C>A MANE Select	NP_077288.2:p.Leu927Ile