Canonical Allele Identifier: CA386304927

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179864T>C (hg19) ; chr12:g.101786086T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786086T>C , CM000674.2:g.101786086T>C	GRCh38
NC_000012.11:g.102179864T>C , CM000674.1:g.102179864T>C	GRCh37
NC_000012.10:g.100703995T>C	NCBI36
NG_021243.1:g.49782A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.497A>G MANE Select	ENSP00000299314.7:p.Asp166Gly
ENST00000299314.11:c.497A>G	ENSP00000299314.7:p.Asp166Gly
ENST00000549940.5:c.497A>G	ENSP00000449150.1:p.Asp166Gly
ENST00000550352.1:n.291A>G
ENST00000552681.1:c.131A>G	ENSP00000449217.1:p.Asp44Gly
NM_024312.4:c.497A>G	NP_077288.2:p.Asp166Gly
XM_006719593.2:c.497A>G	XP_006719656.1:p.Asp166Gly
XM_011538731.1:c.416A>G	XP_011537033.1:p.Asp139Gly
XM_006719593.3:c.497A>G	XP_006719656.1:p.Asp166Gly
XM_011538731.2:c.416A>G	XP_011537033.1:p.Asp139Gly
XM_017019961.1:c.281A>G	XP_016875450.1:p.Asp94Gly
XM_017019962.2:c.-854A>G	XP_016875451.1:n.-854A>G
NM_024312.5:c.497A>G MANE Select	NP_077288.2:p.Asp166Gly