Canonical Allele Identifier: CA481347082

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102224340T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830562T>G , CM000674.2:g.101830562T>G	GRCh38
NC_000012.11:g.102224340T>G , CM000674.1:g.102224340T>G	GRCh37
NC_000012.10:g.100748471T>G	NCBI36
NG_021243.1:g.5306A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.114A>C MANE Select	ENSP00000299314.7:p.Gly38=
ENST00000647144.1:n.102A>C
ENST00000299314.11:c.114A>C	ENSP00000299314.7:p.Gly38=
ENST00000392919.4:c.114A>C	ENSP00000376651.4:p.Gly38=
ENST00000549165.1:c.114A>C	ENSP00000450413.1:p.Gly38=
ENST00000549940.5:c.114A>C	ENSP00000449150.1:p.Gly38=
NM_024312.4:c.114A>C	NP_077288.2:p.Gly38=
XM_006719593.2:c.114A>C	XP_006719656.1:p.Gly38=
XM_006719593.3:c.114A>C	XP_006719656.1:p.Gly38=
XM_017019961.1:c.-100+64A>C	XP_016875450.1:n.-100+64A>C
XM_017019962.2:c.-1237A>C	XP_016875451.1:n.-1237A>C
NM_024312.5:c.114A>C MANE Select	NP_077288.2:p.Gly38=