Canonical Allele Identifier: CA386294683

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153851T>C (hg19) ; chr12:g.101760073T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760073T>C , CM000674.2:g.101760073T>C	GRCh38
NC_000012.11:g.102153851T>C , CM000674.1:g.102153851T>C	GRCh37
NC_000012.10:g.100677982T>C	NCBI36
NG_021243.1:g.75795A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3206A>G MANE Select	ENSP00000299314.7:p.Asn1069Ser
ENST00000299314.11:c.3206A>G	ENSP00000299314.7:p.Asn1069Ser
ENST00000549194.1:n.72A>G
ENST00000550718.1:c.18A>G
NM_024312.4:c.3206A>G	NP_077288.2:p.Asn1069Ser
XM_006719593.2:c.3206A>G	XP_006719656.1:p.Asn1069Ser
XM_011538731.1:c.3125A>G	XP_011537033.1:p.Asn1042Ser
XM_006719593.3:c.3206A>G	XP_006719656.1:p.Asn1069Ser
XM_011538731.2:c.3125A>G	XP_011537033.1:p.Asn1042Ser
XM_017019961.1:c.2990A>G	XP_016875450.1:p.Asn997Ser
XM_017019962.2:c.1979A>G	XP_016875451.1:p.Asn660Ser
NM_024312.5:c.3206A>G MANE Select	NP_077288.2:p.Asn1069Ser