Canonical Allele Identifier: CA386296133

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155367T>A (hg19) ; chr12:g.101761589T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761589T>A , CM000674.2:g.101761589T>A	GRCh38
NC_000012.11:g.102155367T>A , CM000674.1:g.102155367T>A	GRCh37
NC_000012.10:g.100679498T>A	NCBI36
NG_021243.1:g.74279A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2890A>T MANE Select	ENSP00000299314.7:p.Ile964Phe
ENST00000299314.11:c.2890A>T	ENSP00000299314.7:p.Ile964Phe
NM_024312.4:c.2890A>T	NP_077288.2:p.Ile964Phe
XM_006719593.2:c.2890A>T	XP_006719656.1:p.Ile964Phe
XM_011538731.1:c.2809A>T	XP_011537033.1:p.Ile937Phe
XM_006719593.3:c.2890A>T	XP_006719656.1:p.Ile964Phe
XM_011538731.2:c.2809A>T	XP_011537033.1:p.Ile937Phe
XM_017019961.1:c.2674A>T	XP_016875450.1:p.Ile892Phe
XM_017019962.2:c.1663A>T	XP_016875451.1:p.Ile555Phe
NM_024312.5:c.2890A>T MANE Select	NP_077288.2:p.Ile964Phe