Canonical Allele Identifier: CA356548

Gene: GNPTAB

Linked Data

• dbSNP Id: rs281865016
• MyVariant Identifiers: chr12:g.102151032G>A (hg19) ; chr12:g.101757254G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3392C>T MANE Select	ENSP00000299314.7:p.Ser1131Phe
ENST00000299314.11:c.3392C>T	ENSP00000299314.7:p.Ser1131Phe
ENST00000549194.1:n.258C>T
ENST00000549738.5:c.143C>T	ENSP00000450161.1:p.Ser48Phe
ENST00000550718.1:c.204C>T
NM_024312.4:c.3392C>T	NP_077288.2:p.Ser1131Phe
XM_006719593.2:c.3392C>T	XP_006719656.1:p.Ser1131Phe
XM_011538731.1:c.3311C>T	XP_011537033.1:p.Ser1104Phe
XM_006719593.3:c.3392C>T	XP_006719656.1:p.Ser1131Phe
XM_011538731.2:c.3311C>T	XP_011537033.1:p.Ser1104Phe
XM_017019961.1:c.3176C>T	XP_016875450.1:p.Ser1059Phe
XM_017019962.2:c.2165C>T	XP_016875451.1:p.Ser722Phe
NM_024312.5:c.3392C>T MANE Select	NP_077288.2:p.Ser1131Phe