Canonical Allele Identifier: CA386303368

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102164348C>T (hg19) ; chr12:g.101770570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770570C>T , CM000674.2:g.101770570C>T	GRCh38
NC_000012.11:g.102164348C>T , CM000674.1:g.102164348C>T	GRCh37
NC_000012.10:g.100688479C>T	NCBI36
NG_021243.1:g.65298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.949G>A MANE Select	ENSP00000299314.7:p.Asp317Asn
ENST00000299314.11:c.949G>A	ENSP00000299314.7:p.Asp317Asn
ENST00000549940.5:c.949G>A	ENSP00000449150.1:p.Asp317Asn
NM_024312.4:c.949G>A	NP_077288.2:p.Asp317Asn
XM_006719593.2:c.949G>A	XP_006719656.1:p.Asp317Asn
XM_011538731.1:c.868G>A	XP_011537033.1:p.Asp290Asn
XM_006719593.3:c.949G>A	XP_006719656.1:p.Asp317Asn
XM_011538731.2:c.868G>A	XP_011537033.1:p.Asp290Asn
XM_017019961.1:c.733G>A	XP_016875450.1:p.Asp245Asn
XM_017019962.2:c.-279G>A	XP_016875451.1:n.-279G>A
NM_024312.5:c.949G>A MANE Select	NP_077288.2:p.Asp317Asn