Canonical Allele Identifier: CA481318597

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153916C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760138C>T , CM000674.2:g.101760138C>T	GRCh38
NC_000012.11:g.102153916C>T , CM000674.1:g.102153916C>T	GRCh37
NC_000012.10:g.100678047C>T	NCBI36
NG_021243.1:g.75730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3141G>A MANE Select	ENSP00000299314.7:p.Leu1047=
ENST00000299314.11:c.3141G>A	ENSP00000299314.7:p.Leu1047=
ENST00000549194.1:n.7G>A
NM_024312.4:c.3141G>A	NP_077288.2:p.Leu1047=
XM_006719593.2:c.3141G>A	XP_006719656.1:p.Leu1047=
XM_011538731.1:c.3060G>A	XP_011537033.1:p.Leu1020=
XM_006719593.3:c.3141G>A	XP_006719656.1:p.Leu1047=
XM_011538731.2:c.3060G>A	XP_011537033.1:p.Leu1020=
XM_017019961.1:c.2925G>A	XP_016875450.1:p.Leu975=
XM_017019962.2:c.1914G>A	XP_016875451.1:p.Leu638=
NM_024312.5:c.3141G>A MANE Select	NP_077288.2:p.Leu1047=