Canonical Allele Identifier: CA386299089

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158638G>T (hg19) ; chr12:g.101764860G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764860G>T , CM000674.2:g.101764860G>T	GRCh38
NC_000012.11:g.102158638G>T , CM000674.1:g.102158638G>T	GRCh37
NC_000012.10:g.100682769G>T	NCBI36
NG_021243.1:g.71008C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2057C>A MANE Select	ENSP00000299314.7:p.Thr686Lys
ENST00000299314.11:c.2057C>A	ENSP00000299314.7:p.Thr686Lys
NM_024312.4:c.2057C>A	NP_077288.2:p.Thr686Lys
XM_006719593.2:c.2057C>A	XP_006719656.1:p.Thr686Lys
XM_011538731.1:c.1976C>A	XP_011537033.1:p.Thr659Lys
XM_006719593.3:c.2057C>A	XP_006719656.1:p.Thr686Lys
XM_011538731.2:c.1976C>A	XP_011537033.1:p.Thr659Lys
XM_017019961.1:c.1841C>A	XP_016875450.1:p.Thr614Lys
XM_017019962.2:c.830C>A	XP_016875451.1:p.Thr277Lys
NM_024312.5:c.2057C>A MANE Select	NP_077288.2:p.Thr686Lys