Canonical Allele Identifier: CA386294924

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153908A>T (hg19) ; chr12:g.101760130A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760130A>T , CM000674.2:g.101760130A>T	GRCh38
NC_000012.11:g.102153908A>T , CM000674.1:g.102153908A>T	GRCh37
NC_000012.10:g.100678039A>T	NCBI36
NG_021243.1:g.75738T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3149T>A MANE Select	ENSP00000299314.7:p.Leu1050Gln
ENST00000299314.11:c.3149T>A	ENSP00000299314.7:p.Leu1050Gln
ENST00000549194.1:n.15T>A
NM_024312.4:c.3149T>A	NP_077288.2:p.Leu1050Gln
XM_006719593.2:c.3149T>A	XP_006719656.1:p.Leu1050Gln
XM_011538731.1:c.3068T>A	XP_011537033.1:p.Leu1023Gln
XM_006719593.3:c.3149T>A	XP_006719656.1:p.Leu1050Gln
XM_011538731.2:c.3068T>A	XP_011537033.1:p.Leu1023Gln
XM_017019961.1:c.2933T>A	XP_016875450.1:p.Leu978Gln
XM_017019962.2:c.1922T>A	XP_016875451.1:p.Leu641Gln
NM_024312.5:c.3149T>A MANE Select	NP_077288.2:p.Leu1050Gln