Canonical Allele Identifier: CA481576983

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158700A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764922A>G , CM000674.2:g.101764922A>G	GRCh38
NC_000012.11:g.102158700A>G , CM000674.1:g.102158700A>G	GRCh37
NC_000012.10:g.100682831A>G	NCBI36
NG_021243.1:g.70946T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1995T>C MANE Select	ENSP00000299314.7:p.Leu665=
ENST00000299314.11:c.1995T>C	ENSP00000299314.7:p.Leu665=
NM_024312.4:c.1995T>C	NP_077288.2:p.Leu665=
XM_006719593.2:c.1995T>C	XP_006719656.1:p.Leu665=
XM_011538731.1:c.1914T>C	XP_011537033.1:p.Leu638=
XM_006719593.3:c.1995T>C	XP_006719656.1:p.Leu665=
XM_011538731.2:c.1914T>C	XP_011537033.1:p.Leu638=
XM_017019961.1:c.1779T>C	XP_016875450.1:p.Leu593=
XM_017019962.2:c.768T>C	XP_016875451.1:p.Leu256=
NM_024312.5:c.1995T>C MANE Select	NP_077288.2:p.Leu665=