Canonical Allele Identifier: CA386294733

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153863A>T (hg19) ; chr12:g.101760085A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760085A>T , CM000674.2:g.101760085A>T	GRCh38
NC_000012.11:g.102153863A>T , CM000674.1:g.102153863A>T	GRCh37
NC_000012.10:g.100677994A>T	NCBI36
NG_021243.1:g.75783T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3194T>A MANE Select	ENSP00000299314.7:p.Ile1065Asn
ENST00000299314.11:c.3194T>A	ENSP00000299314.7:p.Ile1065Asn
ENST00000549194.1:n.60T>A
ENST00000550718.1:c.6T>A
NM_024312.4:c.3194T>A	NP_077288.2:p.Ile1065Asn
XM_006719593.2:c.3194T>A	XP_006719656.1:p.Ile1065Asn
XM_011538731.1:c.3113T>A	XP_011537033.1:p.Ile1038Asn
XM_006719593.3:c.3194T>A	XP_006719656.1:p.Ile1065Asn
XM_011538731.2:c.3113T>A	XP_011537033.1:p.Ile1038Asn
XM_017019961.1:c.2978T>A	XP_016875450.1:p.Ile993Asn
XM_017019962.2:c.1967T>A	XP_016875451.1:p.Ile656Asn
NM_024312.5:c.3194T>A MANE Select	NP_077288.2:p.Ile1065Asn