Canonical Allele Identifier: CA481577226

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158604C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764826C>G , CM000674.2:g.101764826C>G	GRCh38
NC_000012.11:g.102158604C>G , CM000674.1:g.102158604C>G	GRCh37
NC_000012.10:g.100682735C>G	NCBI36
NG_021243.1:g.71042G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2091G>C MANE Select	ENSP00000299314.7:p.Leu697=
ENST00000299314.11:c.2091G>C	ENSP00000299314.7:p.Leu697=
NM_024312.4:c.2091G>C	NP_077288.2:p.Leu697=
XM_006719593.2:c.2091G>C	XP_006719656.1:p.Leu697=
XM_011538731.1:c.2010G>C	XP_011537033.1:p.Leu670=
XM_006719593.3:c.2091G>C	XP_006719656.1:p.Leu697=
XM_011538731.2:c.2010G>C	XP_011537033.1:p.Leu670=
XM_017019961.1:c.1875G>C	XP_016875450.1:p.Leu625=
XM_017019962.2:c.864G>C	XP_016875451.1:p.Leu288=
NM_024312.5:c.2091G>C MANE Select	NP_077288.2:p.Leu697=