Canonical Allele Identifier: CA386302128

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161935A>C (hg19) ; chr12:g.101768157A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768157A>C , CM000674.2:g.101768157A>C	GRCh38
NC_000012.11:g.102161935A>C , CM000674.1:g.102161935A>C	GRCh37
NC_000012.10:g.100686066A>C	NCBI36
NG_021243.1:g.67711T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1288T>G MANE Select	ENSP00000299314.7:p.Tyr430Asp
ENST00000299314.11:c.1288T>G	ENSP00000299314.7:p.Tyr430Asp
ENST00000549940.5:c.1288T>G	ENSP00000449150.1:p.Tyr430Asp
NM_024312.4:c.1288T>G	NP_077288.2:p.Tyr430Asp
XM_006719593.2:c.1288T>G	XP_006719656.1:p.Tyr430Asp
XM_011538731.1:c.1207T>G	XP_011537033.1:p.Tyr403Asp
XM_006719593.3:c.1288T>G	XP_006719656.1:p.Tyr430Asp
XM_011538731.2:c.1207T>G	XP_011537033.1:p.Tyr403Asp
XM_017019961.1:c.1072T>G	XP_016875450.1:p.Tyr358Asp
XM_017019962.2:c.61T>G	XP_016875451.1:p.Tyr21Asp
NM_024312.5:c.1288T>G MANE Select	NP_077288.2:p.Tyr430Asp