Canonical Allele Identifier: CA386293681

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151384T>A (hg19) ; chr12:g.101757606T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757606T>A , CM000674.2:g.101757606T>A	GRCh38
NC_000012.11:g.102151384T>A , CM000674.1:g.102151384T>A	GRCh37
NC_000012.10:g.100675515T>A	NCBI36
NG_021243.1:g.78262A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3301A>T MANE Select	ENSP00000299314.7:p.Ile1101Phe
ENST00000299314.11:c.3301A>T	ENSP00000299314.7:p.Ile1101Phe
ENST00000549194.1:n.167A>T
ENST00000549738.5:c.52A>T	ENSP00000450161.1:p.Ile18Phe
ENST00000550718.1:c.113A>T
NM_024312.4:c.3301A>T	NP_077288.2:p.Ile1101Phe
XM_006719593.2:c.3301A>T	XP_006719656.1:p.Ile1101Phe
XM_011538731.1:c.3220A>T	XP_011537033.1:p.Ile1074Phe
XM_006719593.3:c.3301A>T	XP_006719656.1:p.Ile1101Phe
XM_011538731.2:c.3220A>T	XP_011537033.1:p.Ile1074Phe
XM_017019961.1:c.3085A>T	XP_016875450.1:p.Ile1029Phe
XM_017019962.2:c.2074A>T	XP_016875451.1:p.Ile692Phe
NM_024312.5:c.3301A>T MANE Select	NP_077288.2:p.Ile1101Phe