Canonical Allele Identifier: CA481318585

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153910A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760132A>C , CM000674.2:g.101760132A>C	GRCh38
NC_000012.11:g.102153910A>C , CM000674.1:g.102153910A>C	GRCh37
NC_000012.10:g.100678041A>C	NCBI36
NG_021243.1:g.75736T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3147T>G MANE Select	ENSP00000299314.7:p.Gly1049=
ENST00000299314.11:c.3147T>G	ENSP00000299314.7:p.Gly1049=
ENST00000549194.1:n.13T>G
NM_024312.4:c.3147T>G	NP_077288.2:p.Gly1049=
XM_006719593.2:c.3147T>G	XP_006719656.1:p.Gly1049=
XM_011538731.1:c.3066T>G	XP_011537033.1:p.Gly1022=
XM_006719593.3:c.3147T>G	XP_006719656.1:p.Gly1049=
XM_011538731.2:c.3066T>G	XP_011537033.1:p.Gly1022=
XM_017019961.1:c.2931T>G	XP_016875450.1:p.Gly977=
XM_017019962.2:c.1920T>G	XP_016875451.1:p.Gly640=
NM_024312.5:c.3147T>G MANE Select	NP_077288.2:p.Gly1049=