Canonical Allele Identifier: CA386296388

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155483C>G (hg19) ; chr12:g.101761705C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761705C>G , CM000674.2:g.101761705C>G	GRCh38
NC_000012.11:g.102155483C>G , CM000674.1:g.102155483C>G	GRCh37
NC_000012.10:g.100679614C>G	NCBI36
NG_021243.1:g.74163G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2774G>C MANE Select	ENSP00000299314.7:p.Arg925Thr
ENST00000299314.11:c.2774G>C	ENSP00000299314.7:p.Arg925Thr
NM_024312.4:c.2774G>C	NP_077288.2:p.Arg925Thr
XM_006719593.2:c.2774G>C	XP_006719656.1:p.Arg925Thr
XM_011538731.1:c.2693G>C	XP_011537033.1:p.Arg898Thr
XM_006719593.3:c.2774G>C	XP_006719656.1:p.Arg925Thr
XM_011538731.2:c.2693G>C	XP_011537033.1:p.Arg898Thr
XM_017019961.1:c.2558G>C	XP_016875450.1:p.Arg853Thr
XM_017019962.2:c.1547G>C	XP_016875451.1:p.Arg516Thr
NM_024312.5:c.2774G>C MANE Select	NP_077288.2:p.Arg925Thr