Canonical Allele Identifier: CA242473297

Gene: GNPTAB

Linked Data

• dbSNP Id: rs74863786
• MyVariant Identifiers: chr12:g.102179805C>A (hg19) ; chr12:g.101786027C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786027C>A , CM000674.2:g.101786027C>A	GRCh38
NC_000012.11:g.102179805C>A , CM000674.1:g.102179805C>A	GRCh37
NC_000012.10:g.100703936C>A	NCBI36
NG_021243.1:g.49841G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.556G>T MANE Select	ENSP00000299314.7:p.Asp186Tyr
ENST00000299314.11:c.556G>T	ENSP00000299314.7:p.Asp186Tyr
ENST00000549940.5:c.556G>T	ENSP00000449150.1:p.Asp186Tyr
ENST00000550352.1:n.350G>T
ENST00000552681.1:c.190G>T	ENSP00000449217.1:p.Asp64Tyr
NM_024312.4:c.556G>T	NP_077288.2:p.Asp186Tyr
XM_006719593.2:c.556G>T	XP_006719656.1:p.Asp186Tyr
XM_011538731.1:c.475G>T	XP_011537033.1:p.Asp159Tyr
XM_006719593.3:c.556G>T	XP_006719656.1:p.Asp186Tyr
XM_011538731.2:c.475G>T	XP_011537033.1:p.Asp159Tyr
XM_017019961.1:c.340G>T	XP_016875450.1:p.Asp114Tyr
XM_017019962.2:c.-795G>T	XP_016875451.1:n.-795G>T
NM_024312.5:c.556G>T MANE Select	NP_077288.2:p.Asp186Tyr