Canonical Allele Identifier: CA386292231

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147186C>A (hg19) ; chr12:g.101753408C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753408C>A , CM000674.2:g.101753408C>A	GRCh38
NC_000012.11:g.102147186C>A , CM000674.1:g.102147186C>A	GRCh37
NC_000012.10:g.100671317C>A	NCBI36
NG_021243.1:g.82460G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3566G>T MANE Select	ENSP00000299314.7:p.Arg1189Leu
ENST00000299314.11:c.3566G>T	ENSP00000299314.7:p.Arg1189Leu
ENST00000549738.5:c.464G>T	ENSP00000450161.1:n.464G>T
NM_024312.4:c.3566G>T	NP_077288.2:p.Arg1189Leu
XM_011538731.1:c.3485G>T	XP_011537033.1:p.Arg1162Leu
XM_011538731.2:c.3485G>T	XP_011537033.1:p.Arg1162Leu
XM_017019961.1:c.3350G>T	XP_016875450.1:p.Arg1117Leu
XM_017019962.2:c.2339G>T	XP_016875451.1:p.Arg780Leu
NM_024312.5:c.3566G>T MANE Select	NP_077288.2:p.Arg1189Leu