Canonical Allele Identifier: CA386292280

Gene: GNPTAB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3556A>T MANE Select	ENSP00000299314.7:p.Arg1186Ter
ENST00000299314.11:c.3556A>T	ENSP00000299314.7:p.Arg1186Ter
ENST00000549738.5:c.454A>T	ENSP00000450161.1:n.454A>T
NM_024312.4:c.3556A>T	NP_077288.2:p.Arg1186Ter
XM_011538731.1:c.3475A>T	XP_011537033.1:p.Arg1159Ter
XM_011538731.2:c.3475A>T	XP_011537033.1:p.Arg1159Ter
XM_017019961.1:c.3340A>T	XP_016875450.1:p.Arg1114Ter
XM_017019962.2:c.2329A>T	XP_016875451.1:p.Arg777Ter
NM_024312.5:c.3556A>T MANE Select	NP_077288.2:p.Arg1186Ter