Canonical Allele Identifier: CA481318199

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151427G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757649G>C , CM000674.2:g.101757649G>C	GRCh38
NC_000012.11:g.102151427G>C , CM000674.1:g.102151427G>C	GRCh37
NC_000012.10:g.100675558G>C	NCBI36
NG_021243.1:g.78219C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3258C>G MANE Select	ENSP00000299314.7:p.Val1086=
ENST00000299314.11:c.3258C>G	ENSP00000299314.7:p.Val1086=
ENST00000549194.1:n.124C>G
ENST00000549738.5:c.9C>G	ENSP00000450161.1:p.Val3=
ENST00000550718.1:c.70C>G
NM_024312.4:c.3258C>G	NP_077288.2:p.Val1086=
XM_006719593.2:c.3258C>G	XP_006719656.1:p.Val1086=
XM_011538731.1:c.3177C>G	XP_011537033.1:p.Val1059=
XM_006719593.3:c.3258C>G	XP_006719656.1:p.Val1086=
XM_011538731.2:c.3177C>G	XP_011537033.1:p.Val1059=
XM_017019961.1:c.3042C>G	XP_016875450.1:p.Val1014=
XM_017019962.2:c.2031C>G	XP_016875451.1:p.Val677=
NM_024312.5:c.3258C>G MANE Select	NP_077288.2:p.Val1086=