Canonical Allele Identifier: CA386299068

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158627G>T (hg19) ; chr12:g.101764849G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764849G>T , CM000674.2:g.101764849G>T	GRCh38
NC_000012.11:g.102158627G>T , CM000674.1:g.102158627G>T	GRCh37
NC_000012.10:g.100682758G>T	NCBI36
NG_021243.1:g.71019C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2068C>A MANE Select	ENSP00000299314.7:p.Gln690Lys
ENST00000299314.11:c.2068C>A	ENSP00000299314.7:p.Gln690Lys
NM_024312.4:c.2068C>A	NP_077288.2:p.Gln690Lys
XM_006719593.2:c.2068C>A	XP_006719656.1:p.Gln690Lys
XM_011538731.1:c.1987C>A	XP_011537033.1:p.Gln663Lys
XM_006719593.3:c.2068C>A	XP_006719656.1:p.Gln690Lys
XM_011538731.2:c.1987C>A	XP_011537033.1:p.Gln663Lys
XM_017019961.1:c.1852C>A	XP_016875450.1:p.Gln618Lys
XM_017019962.2:c.841C>A	XP_016875451.1:p.Gln281Lys
NM_024312.5:c.2068C>A MANE Select	NP_077288.2:p.Gln690Lys