Canonical Allele Identifier: CA386297492

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158020A>T (hg19) ; chr12:g.101764242A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764242A>T , CM000674.2:g.101764242A>T	GRCh38
NC_000012.11:g.102158020A>T , CM000674.1:g.102158020A>T	GRCh37
NC_000012.10:g.100682151A>T	NCBI36
NG_021243.1:g.71626T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2675T>A MANE Select	ENSP00000299314.7:p.Leu892Ter
ENST00000299314.11:c.2675T>A	ENSP00000299314.7:p.Leu892Ter
NM_024312.4:c.2675T>A	NP_077288.2:p.Leu892Ter
XM_006719593.2:c.2675T>A	XP_006719656.1:p.Leu892Ter
XM_011538731.1:c.2594T>A	XP_011537033.1:p.Leu865Ter
XM_006719593.3:c.2675T>A	XP_006719656.1:p.Leu892Ter
XM_011538731.2:c.2594T>A	XP_011537033.1:p.Leu865Ter
XM_017019961.1:c.2459T>A	XP_016875450.1:p.Leu820Ter
XM_017019962.2:c.1448T>A	XP_016875451.1:p.Leu483Ter
NM_024312.5:c.2675T>A MANE Select	NP_077288.2:p.Leu892Ter