Canonical Allele Identifier: CA386303295

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102164317T>C (hg19) ; chr12:g.101770539T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770539T>C , CM000674.2:g.101770539T>C	GRCh38
NC_000012.11:g.102164317T>C , CM000674.1:g.102164317T>C	GRCh37
NC_000012.10:g.100688448T>C	NCBI36
NG_021243.1:g.65329A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.980A>G MANE Select	ENSP00000299314.7:p.Glu327Gly
ENST00000299314.11:c.980A>G	ENSP00000299314.7:p.Glu327Gly
ENST00000549940.5:c.980A>G	ENSP00000449150.1:p.Glu327Gly
NM_024312.4:c.980A>G	NP_077288.2:p.Glu327Gly
XM_006719593.2:c.980A>G	XP_006719656.1:p.Glu327Gly
XM_011538731.1:c.899A>G	XP_011537033.1:p.Glu300Gly
XM_006719593.3:c.980A>G	XP_006719656.1:p.Glu327Gly
XM_011538731.2:c.899A>G	XP_011537033.1:p.Glu300Gly
XM_017019961.1:c.764A>G	XP_016875450.1:p.Glu255Gly
XM_017019962.2:c.-248A>G	XP_016875451.1:n.-248A>G
NM_024312.5:c.980A>G MANE Select	NP_077288.2:p.Glu327Gly