Canonical Allele Identifier: CA386292281

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147196T>C (hg19) ; chr12:g.101753418T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753418T>C , CM000674.2:g.101753418T>C	GRCh38
NC_000012.11:g.102147196T>C , CM000674.1:g.102147196T>C	GRCh37
NC_000012.10:g.100671327T>C	NCBI36
NG_021243.1:g.82450A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3556A>G MANE Select	ENSP00000299314.7:p.Arg1186Gly
ENST00000299314.11:c.3556A>G	ENSP00000299314.7:p.Arg1186Gly
ENST00000549738.5:c.454A>G	ENSP00000450161.1:n.454A>G
NM_024312.4:c.3556A>G	NP_077288.2:p.Arg1186Gly
XM_011538731.1:c.3475A>G	XP_011537033.1:p.Arg1159Gly
XM_011538731.2:c.3475A>G	XP_011537033.1:p.Arg1159Gly
XM_017019961.1:c.3340A>G	XP_016875450.1:p.Arg1114Gly
XM_017019962.2:c.2329A>G	XP_016875451.1:p.Arg777Gly
NM_024312.5:c.3556A>G MANE Select	NP_077288.2:p.Arg1186Gly