Canonical Allele Identifier: CA386293462

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151352A>C (hg19) ; chr12:g.101757574A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757574A>C , CM000674.2:g.101757574A>C	GRCh38
NC_000012.11:g.102151352A>C , CM000674.1:g.102151352A>C	GRCh37
NC_000012.10:g.100675483A>C	NCBI36
NG_021243.1:g.78294T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3333T>G MANE Select	ENSP00000299314.7:p.Tyr1111Ter
ENST00000299314.11:c.3333T>G	ENSP00000299314.7:p.Tyr1111Ter
ENST00000549194.1:n.199T>G
ENST00000549738.5:c.84T>G	ENSP00000450161.1:p.Tyr28Ter
ENST00000550718.1:c.145T>G
NM_024312.4:c.3333T>G	NP_077288.2:p.Tyr1111Ter
XM_006719593.2:c.3333T>G	XP_006719656.1:p.Tyr1111Ter
XM_011538731.1:c.3252T>G	XP_011537033.1:p.Tyr1084Ter
XM_006719593.3:c.3333T>G	XP_006719656.1:p.Tyr1111Ter
XM_011538731.2:c.3252T>G	XP_011537033.1:p.Tyr1084Ter
XM_017019961.1:c.3117T>G	XP_016875450.1:p.Tyr1039Ter
XM_017019962.2:c.2106T>G	XP_016875451.1:p.Tyr702Ter
NM_024312.5:c.3333T>G MANE Select	NP_077288.2:p.Tyr1111Ter