Canonical Allele Identifier: CA481318080

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151351T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757573T>G , CM000674.2:g.101757573T>G	GRCh38
NC_000012.11:g.102151351T>G , CM000674.1:g.102151351T>G	GRCh37
NC_000012.10:g.100675482T>G	NCBI36
NG_021243.1:g.78295A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3334A>C MANE Select	ENSP00000299314.7:p.Arg1112=
ENST00000299314.11:c.3334A>C	ENSP00000299314.7:p.Arg1112=
ENST00000549194.1:n.200A>C
ENST00000549738.5:c.85A>C	ENSP00000450161.1:p.Arg29=
ENST00000550718.1:c.146A>C
NM_024312.4:c.3334A>C	NP_077288.2:p.Arg1112=
XM_006719593.2:c.3334A>C	XP_006719656.1:p.Arg1112=
XM_011538731.1:c.3253A>C	XP_011537033.1:p.Arg1085=
XM_006719593.3:c.3334A>C	XP_006719656.1:p.Arg1112=
XM_011538731.2:c.3253A>C	XP_011537033.1:p.Arg1085=
XM_017019961.1:c.3118A>C	XP_016875450.1:p.Arg1040=
XM_017019962.2:c.2107A>C	XP_016875451.1:p.Arg703=
NM_024312.5:c.3334A>C MANE Select	NP_077288.2:p.Arg1112=