Canonical Allele Identifier: CA386296419

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952999889
• MyVariant Identifiers: chr12:g.102155497G>T (hg19) ; chr12:g.101761719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761719G>T , CM000674.2:g.101761719G>T	GRCh38
NC_000012.11:g.102155497G>T , CM000674.1:g.102155497G>T	GRCh37
NC_000012.10:g.100679628G>T	NCBI36
NG_021243.1:g.74149C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2760C>A MANE Select	ENSP00000299314.7:p.Ser920Arg
ENST00000299314.11:c.2760C>A	ENSP00000299314.7:p.Ser920Arg
NM_024312.4:c.2760C>A	NP_077288.2:p.Ser920Arg
XM_006719593.2:c.2760C>A	XP_006719656.1:p.Ser920Arg
XM_011538731.1:c.2679C>A	XP_011537033.1:p.Ser893Arg
XM_006719593.3:c.2760C>A	XP_006719656.1:p.Ser920Arg
XM_011538731.2:c.2679C>A	XP_011537033.1:p.Ser893Arg
XM_017019961.1:c.2544C>A	XP_016875450.1:p.Ser848Arg
XM_017019962.2:c.1533C>A	XP_016875451.1:p.Ser511Arg
NM_024312.5:c.2760C>A MANE Select	NP_077288.2:p.Ser920Arg