Canonical Allele Identifier: CA386294598

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153818T>G (hg19) ; chr12:g.101760040T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760040T>G , CM000674.2:g.101760040T>G	GRCh38
NC_000012.11:g.102153818T>G , CM000674.1:g.102153818T>G	GRCh37
NC_000012.10:g.100677949T>G	NCBI36
NG_021243.1:g.75828A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3239A>C MANE Select	ENSP00000299314.7:p.Asp1080Ala
ENST00000299314.11:c.3239A>C	ENSP00000299314.7:p.Asp1080Ala
ENST00000549194.1:n.105A>C
ENST00000550718.1:c.51A>C
NM_024312.4:c.3239A>C	NP_077288.2:p.Asp1080Ala
XM_006719593.2:c.3239A>C	XP_006719656.1:p.Asp1080Ala
XM_011538731.1:c.3158A>C	XP_011537033.1:p.Asp1053Ala
XM_006719593.3:c.3239A>C	XP_006719656.1:p.Asp1080Ala
XM_011538731.2:c.3158A>C	XP_011537033.1:p.Asp1053Ala
XM_017019961.1:c.3023A>C	XP_016875450.1:p.Asp1008Ala
XM_017019962.2:c.2012A>C	XP_016875451.1:p.Asp671Ala
NM_024312.5:c.3239A>C MANE Select	NP_077288.2:p.Asp1080Ala