Canonical Allele Identifier: CA386294011

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151426T>A (hg19) ; chr12:g.101757648T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757648T>A , CM000674.2:g.101757648T>A	GRCh38
NC_000012.11:g.102151426T>A , CM000674.1:g.102151426T>A	GRCh37
NC_000012.10:g.100675557T>A	NCBI36
NG_021243.1:g.78220A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3259A>T MANE Select	ENSP00000299314.7:p.Thr1087Ser
ENST00000299314.11:c.3259A>T	ENSP00000299314.7:p.Thr1087Ser
ENST00000549194.1:n.125A>T
ENST00000549738.5:c.10A>T	ENSP00000450161.1:p.Thr4Ser
ENST00000550718.1:c.71A>T
NM_024312.4:c.3259A>T	NP_077288.2:p.Thr1087Ser
XM_006719593.2:c.3259A>T	XP_006719656.1:p.Thr1087Ser
XM_011538731.1:c.3178A>T	XP_011537033.1:p.Thr1060Ser
XM_006719593.3:c.3259A>T	XP_006719656.1:p.Thr1087Ser
XM_011538731.2:c.3178A>T	XP_011537033.1:p.Thr1060Ser
XM_017019961.1:c.3043A>T	XP_016875450.1:p.Thr1015Ser
XM_017019962.2:c.2032A>T	XP_016875451.1:p.Thr678Ser
NM_024312.5:c.3259A>T MANE Select	NP_077288.2:p.Thr1087Ser