Canonical Allele Identifier: CA386296433

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155504G>C (hg19) ; chr12:g.101761726G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761726G>C , CM000674.2:g.101761726G>C	GRCh38
NC_000012.11:g.102155504G>C , CM000674.1:g.102155504G>C	GRCh37
NC_000012.10:g.100679635G>C	NCBI36
NG_021243.1:g.74142C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2753C>G MANE Select	ENSP00000299314.7:p.Thr918Ser
ENST00000299314.11:c.2753C>G	ENSP00000299314.7:p.Thr918Ser
NM_024312.4:c.2753C>G	NP_077288.2:p.Thr918Ser
XM_006719593.2:c.2753C>G	XP_006719656.1:p.Thr918Ser
XM_011538731.1:c.2672C>G	XP_011537033.1:p.Thr891Ser
XM_006719593.3:c.2753C>G	XP_006719656.1:p.Thr918Ser
XM_011538731.2:c.2672C>G	XP_011537033.1:p.Thr891Ser
XM_017019961.1:c.2537C>G	XP_016875450.1:p.Thr846Ser
XM_017019962.2:c.1526C>G	XP_016875451.1:p.Thr509Ser
NM_024312.5:c.2753C>G MANE Select	NP_077288.2:p.Thr918Ser