Canonical Allele Identifier: CA481318508

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153859C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760081C>G , CM000674.2:g.101760081C>G	GRCh38
NC_000012.11:g.102153859C>G , CM000674.1:g.102153859C>G	GRCh37
NC_000012.10:g.100677990C>G	NCBI36
NG_021243.1:g.75787G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3198G>C MANE Select	ENSP00000299314.7:p.Thr1066=
ENST00000299314.11:c.3198G>C	ENSP00000299314.7:p.Thr1066=
ENST00000549194.1:n.64G>C
ENST00000550718.1:c.10G>C
NM_024312.4:c.3198G>C	NP_077288.2:p.Thr1066=
XM_006719593.2:c.3198G>C	XP_006719656.1:p.Thr1066=
XM_011538731.1:c.3117G>C	XP_011537033.1:p.Thr1039=
XM_006719593.3:c.3198G>C	XP_006719656.1:p.Thr1066=
XM_011538731.2:c.3117G>C	XP_011537033.1:p.Thr1039=
XM_017019961.1:c.2982G>C	XP_016875450.1:p.Thr994=
XM_017019962.2:c.1971G>C	XP_016875451.1:p.Thr657=
NM_024312.5:c.3198G>C MANE Select	NP_077288.2:p.Thr1066=