Canonical Allele Identifier: CA386292511

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147244C>A (hg19) ; chr12:g.101753466C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753466C>A , CM000674.2:g.101753466C>A	GRCh38
NC_000012.11:g.102147244C>A , CM000674.1:g.102147244C>A	GRCh37
NC_000012.10:g.100671375C>A	NCBI36
NG_021243.1:g.82402G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3508G>T MANE Select	ENSP00000299314.7:p.Asp1170Tyr
ENST00000299314.11:c.3508G>T	ENSP00000299314.7:p.Asp1170Tyr
ENST00000549738.5:c.406G>T	ENSP00000450161.1:n.406G>T
NM_024312.4:c.3508G>T	NP_077288.2:p.Asp1170Tyr
XM_011538731.1:c.3427G>T	XP_011537033.1:p.Asp1143Tyr
XM_011538731.2:c.3427G>T	XP_011537033.1:p.Asp1143Tyr
XM_017019961.1:c.3292G>T	XP_016875450.1:p.Asp1098Tyr
XM_017019962.2:c.2281G>T	XP_016875451.1:p.Asp761Tyr
NM_024312.5:c.3508G>T MANE Select	NP_077288.2:p.Asp1170Tyr