Canonical Allele Identifier: CA386292123

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147156T>C (hg19) ; chr12:g.101753378T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753378T>C , CM000674.2:g.101753378T>C	GRCh38
NC_000012.11:g.102147156T>C , CM000674.1:g.102147156T>C	GRCh37
NC_000012.10:g.100671287T>C	NCBI36
NG_021243.1:g.82490A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3596A>G MANE Select	ENSP00000299314.7:p.Gln1199Arg
ENST00000299314.11:c.3596A>G	ENSP00000299314.7:p.Gln1199Arg
ENST00000549738.5:c.494A>G	ENSP00000450161.1:n.494A>G
NM_024312.4:c.3596A>G	NP_077288.2:p.Gln1199Arg
XM_011538731.1:c.3515A>G	XP_011537033.1:p.Gln1172Arg
XM_011538731.2:c.3515A>G	XP_011537033.1:p.Gln1172Arg
XM_017019961.1:c.3380A>G	XP_016875450.1:p.Gln1127Arg
XM_017019962.2:c.2369A>G	XP_016875451.1:p.Gln790Arg
NM_024312.5:c.3596A>G MANE Select	NP_077288.2:p.Gln1199Arg