Canonical Allele Identifier: CA386293845

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151405A>T (hg19) ; chr12:g.101757627A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757627A>T , CM000674.2:g.101757627A>T	GRCh38
NC_000012.11:g.102151405A>T , CM000674.1:g.102151405A>T	GRCh37
NC_000012.10:g.100675536A>T	NCBI36
NG_021243.1:g.78241T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3280T>A MANE Select	ENSP00000299314.7:p.Cys1094Ser
ENST00000299314.11:c.3280T>A	ENSP00000299314.7:p.Cys1094Ser
ENST00000549194.1:n.146T>A
ENST00000549738.5:c.31T>A	ENSP00000450161.1:p.Cys11Ser
ENST00000550718.1:c.92T>A
NM_024312.4:c.3280T>A	NP_077288.2:p.Cys1094Ser
XM_006719593.2:c.3280T>A	XP_006719656.1:p.Cys1094Ser
XM_011538731.1:c.3199T>A	XP_011537033.1:p.Cys1067Ser
XM_006719593.3:c.3280T>A	XP_006719656.1:p.Cys1094Ser
XM_011538731.2:c.3199T>A	XP_011537033.1:p.Cys1067Ser
XM_017019961.1:c.3064T>A	XP_016875450.1:p.Cys1022Ser
XM_017019962.2:c.2053T>A	XP_016875451.1:p.Cys685Ser
NM_024312.5:c.3280T>A MANE Select	NP_077288.2:p.Cys1094Ser