Canonical Allele Identifier: CA481318539

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153874A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760096A>C , CM000674.2:g.101760096A>C	GRCh38
NC_000012.11:g.102153874A>C , CM000674.1:g.102153874A>C	GRCh37
NC_000012.10:g.100678005A>C	NCBI36
NG_021243.1:g.75772T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3183T>G MANE Select	ENSP00000299314.7:p.Leu1061=
ENST00000299314.11:c.3183T>G	ENSP00000299314.7:p.Leu1061=
ENST00000549194.1:n.49T>G
NM_024312.4:c.3183T>G	NP_077288.2:p.Leu1061=
XM_006719593.2:c.3183T>G	XP_006719656.1:p.Leu1061=
XM_011538731.1:c.3102T>G	XP_011537033.1:p.Leu1034=
XM_006719593.3:c.3183T>G	XP_006719656.1:p.Leu1061=
XM_011538731.2:c.3102T>G	XP_011537033.1:p.Leu1034=
XM_017019961.1:c.2967T>G	XP_016875450.1:p.Leu989=
XM_017019962.2:c.1956T>G	XP_016875451.1:p.Leu652=
NM_024312.5:c.3183T>G MANE Select	NP_077288.2:p.Leu1061=