Canonical Allele Identifier: CA386301998

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161897G>T (hg19) ; chr12:g.101768119G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768119G>T , CM000674.2:g.101768119G>T	GRCh38
NC_000012.11:g.102161897G>T , CM000674.1:g.102161897G>T	GRCh37
NC_000012.10:g.100686028G>T	NCBI36
NG_021243.1:g.67749C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1326C>A MANE Select	ENSP00000299314.7:p.Cys442Ter
ENST00000299314.11:c.1326C>A	ENSP00000299314.7:p.Cys442Ter
ENST00000549940.5:c.1326C>A	ENSP00000449150.1:p.Cys442Ter
NM_024312.4:c.1326C>A	NP_077288.2:p.Cys442Ter
XM_006719593.2:c.1326C>A	XP_006719656.1:p.Cys442Ter
XM_011538731.1:c.1245C>A	XP_011537033.1:p.Cys415Ter
XM_006719593.3:c.1326C>A	XP_006719656.1:p.Cys442Ter
XM_011538731.2:c.1245C>A	XP_011537033.1:p.Cys415Ter
XM_017019961.1:c.1110C>A	XP_016875450.1:p.Cys370Ter
XM_017019962.2:c.99C>A	XP_016875451.1:p.Cys33Ter
NM_024312.5:c.1326C>A MANE Select	NP_077288.2:p.Cys442Ter