Canonical Allele Identifier: CA481317704

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147269A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753491A>C , CM000674.2:g.101753491A>C	GRCh38
NC_000012.11:g.102147269A>C , CM000674.1:g.102147269A>C	GRCh37
NC_000012.10:g.100671400A>C	NCBI36
NG_021243.1:g.82377T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3483T>G MANE Select	ENSP00000299314.7:p.Ala1161=
ENST00000299314.11:c.3483T>G	ENSP00000299314.7:p.Ala1161=
ENST00000549738.5:c.381T>G	ENSP00000450161.1:n.381T>G
NM_024312.4:c.3483T>G	NP_077288.2:p.Ala1161=
XM_011538731.1:c.3402T>G	XP_011537033.1:p.Ala1134=
XM_011538731.2:c.3402T>G	XP_011537033.1:p.Ala1134=
XM_017019961.1:c.3267T>G	XP_016875450.1:p.Ala1089=
XM_017019962.2:c.2256T>G	XP_016875451.1:p.Ala752=
NM_024312.5:c.3483T>G MANE Select	NP_077288.2:p.Ala1161=