Canonical Allele Identifier: CA386293199

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151032G>T (hg19) ; chr12:g.101757254G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757254G>T , CM000674.2:g.101757254G>T	GRCh38
NC_000012.11:g.102151032G>T , CM000674.1:g.102151032G>T	GRCh37
NC_000012.10:g.100675163G>T	NCBI36
NG_021243.1:g.78614C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3392C>A MANE Select	ENSP00000299314.7:p.Ser1131Tyr
ENST00000299314.11:c.3392C>A	ENSP00000299314.7:p.Ser1131Tyr
ENST00000549194.1:n.258C>A
ENST00000549738.5:c.143C>A	ENSP00000450161.1:p.Ser48Tyr
ENST00000550718.1:c.204C>A
NM_024312.4:c.3392C>A	NP_077288.2:p.Ser1131Tyr
XM_006719593.2:c.3392C>A	XP_006719656.1:p.Ser1131Tyr
XM_011538731.1:c.3311C>A	XP_011537033.1:p.Ser1104Tyr
XM_006719593.3:c.3392C>A	XP_006719656.1:p.Ser1131Tyr
XM_011538731.2:c.3311C>A	XP_011537033.1:p.Ser1104Tyr
XM_017019961.1:c.3176C>A	XP_016875450.1:p.Ser1059Tyr
XM_017019962.2:c.2165C>A	XP_016875451.1:p.Ser722Tyr
NM_024312.5:c.3392C>A MANE Select	NP_077288.2:p.Ser1131Tyr