Canonical Allele Identifier: CA386302049

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161914T>C (hg19) ; chr12:g.101768136T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768136T>C , CM000674.2:g.101768136T>C	GRCh38
NC_000012.11:g.102161914T>C , CM000674.1:g.102161914T>C	GRCh37
NC_000012.10:g.100686045T>C	NCBI36
NG_021243.1:g.67732A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1309A>G MANE Select	ENSP00000299314.7:p.Asn437Asp
ENST00000299314.11:c.1309A>G	ENSP00000299314.7:p.Asn437Asp
ENST00000549940.5:c.1309A>G	ENSP00000449150.1:p.Asn437Asp
NM_024312.4:c.1309A>G	NP_077288.2:p.Asn437Asp
XM_006719593.2:c.1309A>G	XP_006719656.1:p.Asn437Asp
XM_011538731.1:c.1228A>G	XP_011537033.1:p.Asn410Asp
XM_006719593.3:c.1309A>G	XP_006719656.1:p.Asn437Asp
XM_011538731.2:c.1228A>G	XP_011537033.1:p.Asn410Asp
XM_017019961.1:c.1093A>G	XP_016875450.1:p.Asn365Asp
XM_017019962.2:c.82A>G	XP_016875451.1:p.Asn28Asp
NM_024312.5:c.1309A>G MANE Select	NP_077288.2:p.Asn437Asp