Canonical Allele Identifier: CA6746870

Gene: GNPTAB

Linked Data

• dbSNP Id: rs550973950
• ExAC: 12:102179855 T / C
• gnomAD v3: 12-101786077-T-C
• gnomAD v4: 12-101786077-T-C
• MyVariant Identifiers: chr12:g.102179855T>C (hg19) ; chr12:g.101786077T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786077T>C , CM000674.2:g.101786077T>C	GRCh38
NC_000012.11:g.102179855T>C , CM000674.1:g.102179855T>C	GRCh37
NC_000012.10:g.100703986T>C	NCBI36
NG_021243.1:g.49791A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.506A>G MANE Select	ENSP00000299314.7:p.Asn169Ser
ENST00000299314.11:c.506A>G	ENSP00000299314.7:p.Asn169Ser
ENST00000549940.5:c.506A>G	ENSP00000449150.1:p.Asn169Ser
ENST00000550352.1:n.300A>G
ENST00000552681.1:c.140A>G	ENSP00000449217.1:p.Asn47Ser
NM_024312.4:c.506A>G	NP_077288.2:p.Asn169Ser
XM_006719593.2:c.506A>G	XP_006719656.1:p.Asn169Ser
XM_011538731.1:c.425A>G	XP_011537033.1:p.Asn142Ser
XM_006719593.3:c.506A>G	XP_006719656.1:p.Asn169Ser
XM_011538731.2:c.425A>G	XP_011537033.1:p.Asn142Ser
XM_017019961.1:c.290A>G	XP_016875450.1:p.Asn97Ser
XM_017019962.2:c.-845A>G	XP_016875451.1:n.-845A>G
NM_024312.5:c.506A>G MANE Select	NP_077288.2:p.Asn169Ser