Canonical Allele Identifier: CA386304796

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179802T>A (hg19) ; chr12:g.101786024T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786024T>A , CM000674.2:g.101786024T>A	GRCh38
NC_000012.11:g.102179802T>A , CM000674.1:g.102179802T>A	GRCh37
NC_000012.10:g.100703933T>A	NCBI36
NG_021243.1:g.49844A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.559A>T MANE Select	ENSP00000299314.7:p.Ser187Cys
ENST00000299314.11:c.559A>T	ENSP00000299314.7:p.Ser187Cys
ENST00000549940.5:c.559A>T	ENSP00000449150.1:p.Ser187Cys
ENST00000550352.1:n.353A>T
ENST00000552681.1:c.193A>T	ENSP00000449217.1:p.Ser65Cys
NM_024312.4:c.559A>T	NP_077288.2:p.Ser187Cys
XM_006719593.2:c.559A>T	XP_006719656.1:p.Ser187Cys
XM_011538731.1:c.478A>T	XP_011537033.1:p.Ser160Cys
XM_006719593.3:c.559A>T	XP_006719656.1:p.Ser187Cys
XM_011538731.2:c.478A>T	XP_011537033.1:p.Ser160Cys
XM_017019961.1:c.343A>T	XP_016875450.1:p.Ser115Cys
XM_017019962.2:c.-792A>T	XP_016875451.1:n.-792A>T
NM_024312.5:c.559A>T MANE Select	NP_077288.2:p.Ser187Cys