Canonical Allele Identifier: CA386296475

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155522G>A (hg19) ; chr12:g.101761744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761744G>A , CM000674.2:g.101761744G>A	GRCh38
NC_000012.11:g.102155522G>A , CM000674.1:g.102155522G>A	GRCh37
NC_000012.10:g.100679653G>A	NCBI36
NG_021243.1:g.74124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2735C>T MANE Select	ENSP00000299314.7:p.Thr912Ile
ENST00000299314.11:c.2735C>T	ENSP00000299314.7:p.Thr912Ile
NM_024312.4:c.2735C>T	NP_077288.2:p.Thr912Ile
XM_006719593.2:c.2735C>T	XP_006719656.1:p.Thr912Ile
XM_011538731.1:c.2654C>T	XP_011537033.1:p.Thr885Ile
XM_006719593.3:c.2735C>T	XP_006719656.1:p.Thr912Ile
XM_011538731.2:c.2654C>T	XP_011537033.1:p.Thr885Ile
XM_017019961.1:c.2519C>T	XP_016875450.1:p.Thr840Ile
XM_017019962.2:c.1508C>T	XP_016875451.1:p.Thr503Ile
NM_024312.5:c.2735C>T MANE Select	NP_077288.2:p.Thr912Ile