Canonical Allele Identifier: CA386296252

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155423T>C (hg19) ; chr12:g.101761645T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761645T>C , CM000674.2:g.101761645T>C	GRCh38
NC_000012.11:g.102155423T>C , CM000674.1:g.102155423T>C	GRCh37
NC_000012.10:g.100679554T>C	NCBI36
NG_021243.1:g.74223A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2834A>G MANE Select	ENSP00000299314.7:p.Lys945Arg
ENST00000299314.11:c.2834A>G	ENSP00000299314.7:p.Lys945Arg
NM_024312.4:c.2834A>G	NP_077288.2:p.Lys945Arg
XM_006719593.2:c.2834A>G	XP_006719656.1:p.Lys945Arg
XM_011538731.1:c.2753A>G	XP_011537033.1:p.Lys918Arg
XM_006719593.3:c.2834A>G	XP_006719656.1:p.Lys945Arg
XM_011538731.2:c.2753A>G	XP_011537033.1:p.Lys918Arg
XM_017019961.1:c.2618A>G	XP_016875450.1:p.Lys873Arg
XM_017019962.2:c.1607A>G	XP_016875451.1:p.Lys536Arg
NM_024312.5:c.2834A>G MANE Select	NP_077288.2:p.Lys945Arg