Canonical Allele Identifier: CA481576835

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155503A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761725A>C , CM000674.2:g.101761725A>C	GRCh38
NC_000012.11:g.102155503A>C , CM000674.1:g.102155503A>C	GRCh37
NC_000012.10:g.100679634A>C	NCBI36
NG_021243.1:g.74143T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2754T>G MANE Select	ENSP00000299314.7:p.Thr918=
ENST00000299314.11:c.2754T>G	ENSP00000299314.7:p.Thr918=
NM_024312.4:c.2754T>G	NP_077288.2:p.Thr918=
XM_006719593.2:c.2754T>G	XP_006719656.1:p.Thr918=
XM_011538731.1:c.2673T>G	XP_011537033.1:p.Thr891=
XM_006719593.3:c.2754T>G	XP_006719656.1:p.Thr918=
XM_011538731.2:c.2673T>G	XP_011537033.1:p.Thr891=
XM_017019961.1:c.2538T>G	XP_016875450.1:p.Thr846=
XM_017019962.2:c.1527T>G	XP_016875451.1:p.Thr509=
NM_024312.5:c.2754T>G MANE Select	NP_077288.2:p.Thr918=