Canonical Allele Identifier: CA386302124

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161934T>G (hg19) ; chr12:g.101768156T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768156T>G , CM000674.2:g.101768156T>G	GRCh38
NC_000012.11:g.102161934T>G , CM000674.1:g.102161934T>G	GRCh37
NC_000012.10:g.100686065T>G	NCBI36
NG_021243.1:g.67712A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1289A>C MANE Select	ENSP00000299314.7:p.Tyr430Ser
ENST00000299314.11:c.1289A>C	ENSP00000299314.7:p.Tyr430Ser
ENST00000549940.5:c.1289A>C	ENSP00000449150.1:p.Tyr430Ser
NM_024312.4:c.1289A>C	NP_077288.2:p.Tyr430Ser
XM_006719593.2:c.1289A>C	XP_006719656.1:p.Tyr430Ser
XM_011538731.1:c.1208A>C	XP_011537033.1:p.Tyr403Ser
XM_006719593.3:c.1289A>C	XP_006719656.1:p.Tyr430Ser
XM_011538731.2:c.1208A>C	XP_011537033.1:p.Tyr403Ser
XM_017019961.1:c.1073A>C	XP_016875450.1:p.Tyr358Ser
XM_017019962.2:c.62A>C	XP_016875451.1:p.Tyr21Ser
NM_024312.5:c.1289A>C MANE Select	NP_077288.2:p.Tyr430Ser