Canonical Allele Identifier: CA386292233
Gene: GNPTAB HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.102147186C>G (hg19) chr12:g.101753408C>G (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3566G>C MANE Select ENSP00000299314.7:p.Arg1189Pro
ENST00000299314.11:c.3566G>C ENSP00000299314.7:p.Arg1189Pro
ENST00000549738.5:c.464G>C ENSP00000450161.1:n.464G>C
NM_024312.4:c.3566G>C NP_077288.2:p.Arg1189Pro
XM_011538731.1:c.3485G>C XP_011537033.1:p.Arg1162Pro
XM_011538731.2:c.3485G>C XP_011537033.1:p.Arg1162Pro
XM_017019961.1:c.3350G>C XP_016875450.1:p.Arg1117Pro
XM_017019962.2:c.2339G>C XP_016875451.1:p.Arg780Pro
NM_024312.5:c.3566G>C MANE Select NP_077288.2:p.Arg1189Pro
Search 100 bp 5'
Search 100 bp 3'