Canonical Allele Identifier: CA386293167

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151017T>C (hg19) ; chr12:g.101757239T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757239T>C , CM000674.2:g.101757239T>C	GRCh38
NC_000012.11:g.102151017T>C , CM000674.1:g.102151017T>C	GRCh37
NC_000012.10:g.100675148T>C	NCBI36
NG_021243.1:g.78629A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3407A>G MANE Select	ENSP00000299314.7:p.Gln1136Arg
ENST00000299314.11:c.3407A>G	ENSP00000299314.7:p.Gln1136Arg
ENST00000549194.1:n.273A>G
ENST00000549738.5:c.158A>G	ENSP00000450161.1:p.Gln53Arg
ENST00000550718.1:c.219A>G
NM_024312.4:c.3407A>G	NP_077288.2:p.Gln1136Arg
XM_006719593.2:c.3407A>G	XP_006719656.1:p.Gln1136Arg
XM_011538731.1:c.3326A>G	XP_011537033.1:p.Gln1109Arg
XM_006719593.3:c.3407A>G	XP_006719656.1:p.Gln1136Arg
XM_011538731.2:c.3326A>G	XP_011537033.1:p.Gln1109Arg
XM_017019961.1:c.3191A>G	XP_016875450.1:p.Gln1064Arg
XM_017019962.2:c.2180A>G	XP_016875451.1:p.Gln727Arg
NM_024312.5:c.3407A>G MANE Select	NP_077288.2:p.Gln1136Arg