Canonical Allele Identifier: CA386295457

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155000A>T (hg19) ; chr12:g.101761222A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761222A>T , CM000674.2:g.101761222A>T	GRCh38
NC_000012.11:g.102155000A>T , CM000674.1:g.102155000A>T	GRCh37
NC_000012.10:g.100679131A>T	NCBI36
NG_021243.1:g.74646T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3040T>A MANE Select	ENSP00000299314.7:p.Phe1014Ile
ENST00000299314.11:c.3040T>A	ENSP00000299314.7:p.Phe1014Ile
NM_024312.4:c.3040T>A	NP_077288.2:p.Phe1014Ile
XM_006719593.2:c.3040T>A	XP_006719656.1:p.Phe1014Ile
XM_011538731.1:c.2959T>A	XP_011537033.1:p.Phe987Ile
XM_006719593.3:c.3040T>A	XP_006719656.1:p.Phe1014Ile
XM_011538731.2:c.2959T>A	XP_011537033.1:p.Phe987Ile
XM_017019961.1:c.2824T>A	XP_016875450.1:p.Phe942Ile
XM_017019962.2:c.1813T>A	XP_016875451.1:p.Phe605Ile
NM_024312.5:c.3040T>A MANE Select	NP_077288.2:p.Phe1014Ile