Canonical Allele Identifier: CA481327920

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102190511G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796733G>A , CM000674.2:g.101796733G>A	GRCh38
NC_000012.11:g.102190511G>A , CM000674.1:g.102190511G>A	GRCh37
NC_000012.10:g.100714642G>A	NCBI36
NG_021243.1:g.39135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.147C>T MANE Select	ENSP00000299314.7:p.Tyr49=
ENST00000647144.1:n.267C>T
ENST00000299314.11:c.147C>T	ENSP00000299314.7:p.Tyr49=
ENST00000392919.4:c.147C>T	ENSP00000376651.4:p.Tyr49=
ENST00000549165.1:c.147C>T	ENSP00000450413.1:p.Tyr49=
ENST00000549940.5:c.147C>T	ENSP00000449150.1:p.Tyr49=
NM_024312.4:c.147C>T	NP_077288.2:p.Tyr49=
XM_006719593.2:c.147C>T	XP_006719656.1:p.Tyr49=
XM_011538731.1:c.66C>T	XP_011537033.1:p.Tyr22=
XM_006719593.3:c.147C>T	XP_006719656.1:p.Tyr49=
XM_011538731.2:c.66C>T	XP_011537033.1:p.Tyr22=
XM_017019961.1:c.-70C>T	XP_016875450.1:n.-70C>T
XM_017019962.2:c.-1204C>T	XP_016875451.1:n.-1204C>T
NM_024312.5:c.147C>T MANE Select	NP_077288.2:p.Tyr49=