Canonical Allele Identifier: CA386301738

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161824C>T (hg19) ; chr12:g.101768046C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768046C>T , CM000674.2:g.101768046C>T	GRCh38
NC_000012.11:g.102161824C>T , CM000674.1:g.102161824C>T	GRCh37
NC_000012.10:g.100685955C>T	NCBI36
NG_021243.1:g.67822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1399G>A MANE Select	ENSP00000299314.7:p.Asp467Asn
ENST00000299314.11:c.1399G>A	ENSP00000299314.7:p.Asp467Asn
ENST00000549940.5:c.1399G>A	ENSP00000449150.1:p.Asp467Asn
ENST00000552009.1:n.58G>A
NM_024312.4:c.1399G>A	NP_077288.2:p.Asp467Asn
XM_006719593.2:c.1399G>A	XP_006719656.1:p.Asp467Asn
XM_011538731.1:c.1318G>A	XP_011537033.1:p.Asp440Asn
XM_006719593.3:c.1399G>A	XP_006719656.1:p.Asp467Asn
XM_011538731.2:c.1318G>A	XP_011537033.1:p.Asp440Asn
XM_017019961.1:c.1183G>A	XP_016875450.1:p.Asp395Asn
XM_017019962.2:c.172G>A	XP_016875451.1:p.Asp58Asn
NM_024312.5:c.1399G>A MANE Select	NP_077288.2:p.Asp467Asn